Comparison of Diagnostic Yield of a FISH Panel Against Conventional Cytogenetic Studies for Hematological Malignancies: A South Indian Referral Laboratory Analysis Of 201 Cases
Asian Pacific journal of cancer prevention : APJCP(2017)
摘要
Objectives: Genetic markers are crucial fort diagnostic and prognostic investigation of hematological malignancies
(HM). The conventional cytogenetic study (CCS) has been the gold standard for more than five decades. However,
FISH (Fluorescence in Situ Hybridization) testing has become a popular modality owing to its targeted approach and
the ability to detect abnormalities in non-mitotic cells. We here aimed to compare the diagnostic yields of a FISH
panel against CCS in HMs. Methods: Samples of bone marrow and peripheral blood for a total of 201 HMs were
tested for specific gene rearrangements using multi-target FISH and the results were compared with those from CCS.
Results: Exhibited a greater diagnostic yield with a positive result in 39.8% of the cases, as compared to 17.9% of cases
detected by CCS. Cases of chronic lymphocytic leukaemia (CLL) benefited the most by FISH testing, which identified
chromosomal aberrations beyond the capacity of CCS. FISH was least beneficial in myelodysplastic syndrome (MDS)
where the highest concordance with CCS was exhibited. Acute lymphocytic leukaemia (ALL) demonstrated greater
benefit with CCS. In addition, we found the following abnormalities to be most prevalent in HMs by FISH panel testing:
RUNX1 (21q22) amplification in ALL, deletion of D13S319/LAMP1 (13q14) in CLL, CKS1B (1q21) amplification
in multiple myeloma and deletion of EGR1/RPS14 (5q31/5q32) in MDS, consistent with the literature. Conclusions:
In conclusion, FISH was found to be advantageous in only a subset of HMs and cannot completely replace CCS.
Utilization of the two modalities in conjunction or independently should depend on the indicated HM for an optimal
approach to detecting chromosomal aberrations.
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关键词
Chromosomal aberration,cytogenetics,fluorescence in situ hybridization,hematological malignancies
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