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Updated: Aug 1, 2025
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Interphase Fluorescence in situ Hybridization of Bone Marrow Smears of Multiple Myeloma
Published on: April 15, 2022
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Comprehensive FISH testing using FFPE tissue microarray of primary lymph node tissue identifies secondary cytogenetic
Fiona Webb1, Adrienne Morey2, Collete Mahler-Hinder3
1Department of Diagnostic Genomics, ACT Pathology, Canberra Health Services, Canberra, Australia.
Cancer Genetics
|April 24, 2023
Summary
Mantle Cell Lymphoma (MCL) diagnosis can be improved by using fluorescence in situ hybridisation (FISH) to detect secondary cytogenetic changes. Immunohistochemistry (IHC) can effectively screen for these abnormalities, guiding further FISH testing for better prognostic assessment.
Area of Science:
- Hematology
- Oncology
- Cytogenetics
Background:
- Mantle Cell Lymphoma (MCL) is characterized by the t(11;14) translocation, leading to CCND1-IGH gene fusion.
- Additional cytogenetic alterations like MYC rearrangements and CDKN2A/TP53 losses are prognostic but not routinely assessed.
Purpose of the Study:
- To identify secondary cytogenetic changes in MCL using FISH on FFPE tissue.
- To evaluate if IHC biomarkers can reliably predict FISH abnormalities and guide testing.
Main Methods:
- Tissue microarrays (TMAs) from 28 MCL patients were stained with 7 IHC biomarkers.
- FISH was performed on the same TMAs using probes for corresponding genes.
- IHC results were compared with FISH findings.
Main Results:
- CCND1-IGH fusion was detected in 96% of samples by FISH.
- FISH identified additional cytogenetic changes in 54% of MCL cases.
- Cyclin D1 IHC predicted CCND1-IGH fusion; MYC and ATM IHC were useful for screening FISH abnormalities and identifying poor prognostic features.
Conclusions:
- FISH on FFPE tissue can detect prognostically significant secondary cytogenetic abnormalities in MCL.
- An expanded FISH panel, guided by IHC, is recommended for cases with anomalous IHC expression or blastoid morphology.
