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FISH, ALL/NHL, MYC-BA, 8q24 Rearrangement
Test Code14706
CPT Codes
88271 (x2), 88275
Includes
Note: If results are not possible, the test order may be canceled and replaced with a Cytogenetics Communication.
Preferred Specimen
5x5 mm lymph node collected in a sterile container in Hank's Ringer's solution or culture medium with antibiotics (transport medium available upon request)
Minimum Volume
5x5 mm lymph node • 1 mL bone marrow • 3 mL whole blood
Other Acceptable Specimens
3 mL bone marrow or 5 mL whole blood collected in: Sodium heparin (green-top) tube or sodium heparin lead-free (tan-top) tube • Fresh (unfixed) tissue • Formalin-fixed, paraffin-embedded tissue block or slides
Instructions
Clinical history and reason for referral are required with test order. Prior therapy and transplant history should be provided with test order.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Refrigerated: See instructions
Frozen: See instructions
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 5 days
Reference Range
See Laboratory Report
Clinical Significance
This fluorescence in situ hybridization (FISH) assay uses a break-apart probe to detect the MYC translocation. The results of this test may aid in the diagnosis, risk stratification, and treatment decisions of B cell neoplasms.
Rearrangements of the MYC (or c-MYC) gene, which encodes a transcription factor, are associated with B cell neoplasms including Burkitt lymphoma (BL), diffuse large B cell lymphoma (DLBCL), and plasmablastic lymphoma [1]. The MYC arrangements occur in all patients with BL and 5% to 8% of patients with DLBCL [2]; most are caused by translocation of MYC to the IGH, IGK, or IGL locus [1]. Because this FISH assay with a MYC break-apart probe can detect MYC translocation with various partner genes, it is the optimal assay for the evaluation of the MYC locus in patients with BL and DLBCL [3]. However, further testing may be needed to identify a specific translocation partner gene.
A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 12, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). B-cell lymphomas. Version 5.2023. Updated July 7, 2023.https://www.nccn.org
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Pediatric aggressive mature B-cell lymphomas. Version 1.2023. Updated April 4, 2023. https://www.nccn.org
Rearrangements of the MYC (or c-MYC) gene, which encodes a transcription factor, are associated with B cell neoplasms including Burkitt lymphoma (BL), diffuse large B cell lymphoma (DLBCL), and plasmablastic lymphoma [1]. The MYC arrangements occur in all patients with BL and 5% to 8% of patients with DLBCL [2]; most are caused by translocation of MYC to the IGH, IGK, or IGL locus [1]. Because this FISH assay with a MYC break-apart probe can detect MYC translocation with various partner genes, it is the optimal assay for the evaluation of the MYC locus in patients with BL and DLBCL [3]. However, further testing may be needed to identify a specific translocation partner gene.
A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.
The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.
References
1. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 12, 2023. https://tumourclassification.iarc.who.int
2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). B-cell lymphomas. Version 5.2023. Updated July 7, 2023.https://www.nccn.org
3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Pediatric aggressive mature B-cell lymphomas. Version 1.2023. Updated April 4, 2023. https://www.nccn.org
