Special Collection

At least 10% tumor must be present in the submitted sample (based on internal pathology review). FFPE unstained charged slides are preferred; please submit 6 slides (3 micron thick) AND consecutively cut H&E slide

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Unstained tissue slide Charged Slides   Preferred
       
OCT-embedded tissue Tissue cassette   Alternate
OCT-embedded tissue Cryogenic tube   Alternate
       
Paraffin embedded tissue Paraffin block   Alternate
       
Tissue (Fresh) Tissue culture transport media   Alternate
Tissue (Fresh) Sterile container with saline   Alternate
       
Tissue (Snap-frozen) Tissue cassette   Alternate
Tissue (Snap-frozen) Cryogenic tube   Alternate

Outpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

Unacceptable Conditions

Tissue degradation, Delayed or improper handling, Decalcified tissue, Inadequate tissue, Wrong type of specimen

Stability

Unstained tissue slide: Room temperature 6 month(s)

OCT-embedded tissue: Frozen 6 month(s)

Paraffin embedded tissue: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 6 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, paraffin-embedded tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen. 

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue and paraffin-embedded tissue at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

1 week

Lab Area

Institute for Genomic Medicine

Methodology

Fluorescence in situ hybridization (FISH)

CPT Codes

88271 (x4), 88275

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test

Special Collection

At least 10% tumor must be present in the submitted sample (based on internal pathology review). FFPE unstained charged slides are preferred; please submit 6 slides (3 micron thick) AND consecutively cut H&E slide

Collect

Specimen Type Type of Container Volume of Specimen Status
Unstained tissue slide Charged Slides   Preferred
       
OCT-embedded tissue Tissue cassette   Alternate
OCT-embedded tissue Cryogenic tube   Alternate
       
Paraffin embedded tissue Paraffin block   Alternate
       
Tissue (Fresh) Tissue culture transport media   Alternate
Tissue (Fresh) Sterile container with saline   Alternate
       
Tissue (Snap-frozen) Tissue cassette   Alternate
Tissue (Snap-frozen) Cryogenic tube   Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Unstained tissue slide Charged Slides  
OCT-embedded tissue Tissue cassette  
OCT-embedded tissue Cryogenic tube  
Paraffin embedded tissue Paraffin block  
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Tissue (Snap-frozen) Tissue cassette  
Tissue (Snap-frozen) Cryogenic tube  

Inpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

Unacceptable Conditions

Tissue degradation, Delayed or improper handling, Decalcified tissue, Inadequate tissue, Wrong type of specimen

Stability

Unstained tissue slide: Room temperature 6 month(s)

OCT-embedded tissue: Frozen 6 month(s)

Paraffin embedded tissue: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 6 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, paraffin-embedded tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen. 

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue and paraffin-embedded tissue at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

1 week

CPT Codes

88271 (x4), 88275

Lab Area

Institute for Genomic Medicine

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test

Estimated Patient Price

$1,000 - $2,500

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test

CPT Codes

88271 (x4), 88275

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Methodology

Fluorescence in situ hybridization (FISH)

Special Collection

At least 10% tumor must be present in the submitted sample (based on internal pathology review). FFPE unstained charged slides are preferred; please submit 6 slides (3 micron thick) AND consecutively cut H&E slide

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Unstained tissue slide Charged Slides   Preferred
       
OCT-embedded tissue Tissue cassette   Alternate
OCT-embedded tissue Cryogenic tube   Alternate
       
Paraffin embedded tissue Paraffin block   Alternate
       
Tissue (Fresh) Tissue culture transport media   Alternate
Tissue (Fresh) Sterile container with saline   Alternate
       
Tissue (Snap-frozen) Tissue cassette   Alternate
Tissue (Snap-frozen) Cryogenic tube   Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Unstained tissue slide Charged Slides  
OCT-embedded tissue Tissue cassette  
OCT-embedded tissue Cryogenic tube  
Paraffin embedded tissue Paraffin block  
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Tissue (Snap-frozen) Tissue cassette  
Tissue (Snap-frozen) Cryogenic tube  

Inpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

Outpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

InLab Processing

Send to Cytogenetics Lab with all submitted paperwork. For Non-EPIC lab orders, lab staff to order GENSP in Sunquest.

Stability

Unstained tissue slide: Room temperature 6 month(s)

OCT-embedded tissue: Frozen 6 month(s)

Paraffin embedded tissue: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 6 month(s)

 

Unacceptable Conditions

Tissue degradation, Delayed or improper handling, Decalcified tissue, Inadequate tissue, Wrong type of specimen

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

1 week

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, paraffin-embedded tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen. 

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue and paraffin-embedded tissue at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test

Methodology

Fluorescence in situ hybridization (FISH)

CPT Codes

88271 (x4), 88275

Estimated Patient Price

$1,000 - $2,500

DC Code

5321

Downtime Availability

4-Not available
Outpatient Requirements

Special Collection

At least 10% tumor must be present in the submitted sample (based on internal pathology review). FFPE unstained charged slides are preferred; please submit 6 slides (3 micron thick) AND consecutively cut H&E slide

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Unstained tissue slide Charged Slides   Preferred
       
OCT-embedded tissue Tissue cassette   Alternate
OCT-embedded tissue Cryogenic tube   Alternate
       
Paraffin embedded tissue Paraffin block   Alternate
       
Tissue (Fresh) Tissue culture transport media   Alternate
Tissue (Fresh) Sterile container with saline   Alternate
       
Tissue (Snap-frozen) Tissue cassette   Alternate
Tissue (Snap-frozen) Cryogenic tube   Alternate

Outpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

Unacceptable Conditions

Tissue degradation, Delayed or improper handling, Decalcified tissue, Inadequate tissue, Wrong type of specimen

Stability

Unstained tissue slide: Room temperature 6 month(s)

OCT-embedded tissue: Frozen 6 month(s)

Paraffin embedded tissue: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 6 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, paraffin-embedded tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen. 

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue and paraffin-embedded tissue at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

1 week

Lab Area

Institute for Genomic Medicine

Methodology

Fluorescence in situ hybridization (FISH)

CPT Codes

88271 (x4), 88275

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test
Inpatient Requirements

Special Collection

At least 10% tumor must be present in the submitted sample (based on internal pathology review). FFPE unstained charged slides are preferred; please submit 6 slides (3 micron thick) AND consecutively cut H&E slide

Collect

Specimen Type Type of Container Volume of Specimen Status
Unstained tissue slide Charged Slides   Preferred
       
OCT-embedded tissue Tissue cassette   Alternate
OCT-embedded tissue Cryogenic tube   Alternate
       
Paraffin embedded tissue Paraffin block   Alternate
       
Tissue (Fresh) Tissue culture transport media   Alternate
Tissue (Fresh) Sterile container with saline   Alternate
       
Tissue (Snap-frozen) Tissue cassette   Alternate
Tissue (Snap-frozen) Cryogenic tube   Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Unstained tissue slide Charged Slides  
OCT-embedded tissue Tissue cassette  
OCT-embedded tissue Cryogenic tube  
Paraffin embedded tissue Paraffin block  
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Tissue (Snap-frozen) Tissue cassette  
Tissue (Snap-frozen) Cryogenic tube  

Inpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

Unacceptable Conditions

Tissue degradation, Delayed or improper handling, Decalcified tissue, Inadequate tissue, Wrong type of specimen

Stability

Unstained tissue slide: Room temperature 6 month(s)

OCT-embedded tissue: Frozen 6 month(s)

Paraffin embedded tissue: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 6 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, paraffin-embedded tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen. 

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue and paraffin-embedded tissue at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

1 week

CPT Codes

88271 (x4), 88275

Lab Area

Institute for Genomic Medicine

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test

Estimated Patient Price

$1,000 - $2,500
Overview/Billing

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test

CPT Codes

88271 (x4), 88275
Interpretation

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Methodology

Fluorescence in situ hybridization (FISH)
NCH Lab Only

Special Collection

At least 10% tumor must be present in the submitted sample (based on internal pathology review). FFPE unstained charged slides are preferred; please submit 6 slides (3 micron thick) AND consecutively cut H&E slide

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Unstained tissue slide Charged Slides   Preferred
       
OCT-embedded tissue Tissue cassette   Alternate
OCT-embedded tissue Cryogenic tube   Alternate
       
Paraffin embedded tissue Paraffin block   Alternate
       
Tissue (Fresh) Tissue culture transport media   Alternate
Tissue (Fresh) Sterile container with saline   Alternate
       
Tissue (Snap-frozen) Tissue cassette   Alternate
Tissue (Snap-frozen) Cryogenic tube   Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Unstained tissue slide Charged Slides  
OCT-embedded tissue Tissue cassette  
OCT-embedded tissue Cryogenic tube  
Paraffin embedded tissue Paraffin block  
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Tissue (Snap-frozen) Tissue cassette  
Tissue (Snap-frozen) Cryogenic tube  

Inpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

Outpatient Specimen Preparation

Unstained tissue slide: Keep at room temperature
                                     Protect from heat
                                     Must accompany H&E slide from adjacent section
                                     Do not decalcify

OCT-embedded tissue: Immediately place on dry ice and transport frozen
                                      Keep frozen
                                      Protect from heat

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat
                                           Do not decalcify

Tissue (Fresh): Transport to the lab immediately after collection
                         Keep at room temperature or refrigerate
                         Do not freeze

Tissue (Snap-frozen): Freeze immediately after collection.
                                   Immediately place on dry ice and transport frozen
                                   Keep frozen
                                   Protect from heat

 

InLab Processing

Send to Cytogenetics Lab with all submitted paperwork. For Non-EPIC lab orders, lab staff to order GENSP in Sunquest.

Stability

Unstained tissue slide: Room temperature 6 month(s)

OCT-embedded tissue: Frozen 6 month(s)

Paraffin embedded tissue: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 6 month(s)

 

Unacceptable Conditions

Tissue degradation, Delayed or improper handling, Decalcified tissue, Inadequate tissue, Wrong type of specimen

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

1 week

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.

Acceptable specimen types for this test include fresh tissue, snap-frozen tissue, OCT-embedded tissue, paraffin-embedded tissue, and unstained slides (6 consecutive, unstained, 3 micron-thick sections placed on positively charged slides; decalcified sections will not be accepted; must accompany a hematoxylin and eosin (H&E) stained slide from the adjacent section). Pathology review by a Nationwide Children's Laboratory Services pathologist will be performed on all tumor samples to verify tumor percentage.

All submitted specimens must contain minimum of ≥10% tumor. Please submit the pathology report from the submitted sample. Internal pathology review will also be performed to determine the tumor content in specimen. 

All specimens must be labeled with a patient name and one other identifier (DOB, MRN, Specimen ID#, etc). Sample acquisition prior to receiving therapy is strongly preferred.

Send all samples via overnight courier service. Send snap-frozen or OCT-embedded tissue buried in dry ice. Send fresh tissue and paraffin-embedded tissue at room temperature. Saturday deliveries are accepted; please check "Saturday Delivery" on shipment label for Saturday delivery. Please call (614) 722-5321 for any questions regarding this test.

Clinical Information

This test includes FISH analyses performed on tumor specimens and identifies amplification of the MYCN (N-MYC) and MYC (C-MYC) oncogene loci. Presence or absence of MYCN and MYC amplification may be used to help determine molecular subgroup and risk classification for medulloblastoma and other tumors.

Medulloblastoma is the most common malignant brain tumor in children. Several biomarkers are used to determine the classification of medulloblastoma subtype, which affect treatment decisions. Identifying gene amplifications for MYCN and MYC oncogenes is used to help determine clinical subtype classification of medulloblastoma, provide prognostic information, and guide treatment.

Patients have variable risk (low, intermediate, or high) based on a variety of clinical and biological factors. These include age at diagnosis, extent of surgical resection, metastatic status, and histological features. Recently, molecular subgroups of medulloblastoma have been established based on gene expression signatures. These four subgroups have disparate mutational spectra, cytogenetic characteristics, and clinical phenotypes.

  • The WNT molecular subgroup is documented for ~10% of medulloblastoma cases. This low-risk subgroup is characterized by somatic mutations in CTNNB1 as well as monosomy 6. Complete or partial monosomy for chromosome 6 is rare in other medulloblastoma subgroups. MYC and MYCN amplifications are almost never seen in this WNT subgroup.
  • The SHH molecular subgroup is documented for ~25-30% of medulloblastoma cases. This group is considered as intermediate-risk and is characterized by genetic alterations in genes in the SHH signaling pathway including amplification of the MYCN locus.
  • The Group 3 subgroup is documented for ~25-30% of medulloblastoma cases; this group is considered as high-risk. Almost all cases in this Group 3 subgroup have aberrant MYC expression (including MYC amplification occurring in about 10-17% of patients in this subgroup).
  • The Group 4 subgroup is the largest subgroup, seen in ~40-50% of medulloblastoma cases, and is considered as intermediate-risk. As with the SHH subgroup, this subgroup can also present with amplification of the MYCN locus.

References: Foussel MF and Robinson GW (2013). Role of MYC in medulloblastoma. Cold Spring Harb Perspect Med. 3:a014308; Archer TC et al (2017). Medulloblastoma: molecular classification-based personal therapeutics. Neurotherapeutics. 14:265-273; Sengupta S et al (2017). The evolution of medulloblastoma therapy to personalized medicine. F1000Res. 6:490

Synonyms

  • Medulloblastoma FISH, MYCN gene amplification detection, MYC gene amplification detection, N-MYC FISH, C-MYC FISH, N-MYC Oncogene FISH, C-MYC Oncogene FISH, MYC (8q24) Amplification, MYCN (2p24.3) Amplification, CMYC FISH, IGM Test

Methodology

Fluorescence in situ hybridization (FISH)

CPT Codes

88271 (x4), 88275

Estimated Patient Price

$1,000 - $2,500

DC Code

5321

Downtime Availability

4-Not available

Lab Area

Lab Area
Institute for Genomic Medicine