Kokate Prajakta, Dalvi Rupa, Koppaka Neeraja, Mandava Swarna
Cytogenetics division, SRL Diagnostic Ltd., Prime Square Building, Gaiwadi Industrial Estate, S.V.Road, Goregaon, Mumbai 400 062, India.
Cytogenetics division, SRL Diagnostic Ltd., Prime Square Building, Gaiwadi Industrial Estate, S.V.Road, Goregaon, Mumbai 400 062, India.
Cancer Genet. 2017 Oct;216-217:120-127. doi: 10.1016/j.cancergen.2017.05.004. Epub 2017 Aug 16.
Cytogenetics is a critical independent prognostic factor in myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and Fluorescence in situ hybridization (FISH) Panel Testing are extensively used for the prognostic stratification of MDS, although the FISH test is not yet a bona fide component of the International Prognostic Scoring System (IPSS). The present study compares the utility of CC and FISH to detect chromosomal anomalies and in prognostic categorization. GTG-Banding and FISH Panel Testing specifically for -5/-5q, -7/-7q, +8 and -20q was performed on whole blood or bone marrow samples from 136 patients with MDS. Chromosomal anomalies were found in 40 cases by CC, including three novel translocations. FISH identified at least one anomaly in 54/136 (39.7%) cases. More than one anomaly was found in 18/54 (33.3%) cases, therefore, overall FISH identified 75 anomalies of which 32 (42.6%) were undetected by CC. FISH provided additional information in cases with CC failure and in cases with a normal karyotype. Further, in ten cases with an abnormal karyotype, FISH could identify additional anomalies, increasing the number of abnormalities per patient. Although CC is the gold standard in the cytogenetic profiling of MDS, FISH has proven to be an asset in identifying additional abnormalities. The number of anomalies per patient can predict the prognosis in MDS and hence, FISH contributed towards prognostic re-categorization. The FISH Panel testing should be used as an adjunct to CC, irrespective of the adequacy of the number of metaphases in CC, as it improves the prognostic classification of MDS.
细胞遗传学是骨髓增生异常综合征（MDS）中一个关键的独立预后因素。传统细胞遗传学（CC）和荧光原位杂交（FISH）检测板检测被广泛用于MDS的预后分层，尽管FISH检测尚未成为国际预后评分系统（IPSS）的一个真正组成部分。本研究比较了CC和FISH在检测染色体异常及预后分类方面的效用。对136例MDS患者的全血或骨髓样本进行了专门针对-5/-5q、-7/-7q、+8和-20q的GTG显带和FISH检测板检测。通过CC在40例中发现了染色体异常，包括三种新的易位。FISH在54/136（39.7%）例中至少发现了一种异常。在18/54（33.3%）例中发现了不止一种异常，因此，总体上FISH共发现了75种异常，其中32种（42.6%）未被CC检测到。FISH在CC检测失败的病例和核型正常的病例中提供了额外信息。此外，在10例核型异常的病例中，FISH能够识别出额外的异常，增加了每位患者的异常数量。尽管CC是MDS细胞遗传学分析的金标准，但FISH已被证明在识别额外异常方面是一项有用的技术。每位患者的异常数量可以预测MDS的预后，因此，FISH有助于预后重新分类。无论CC中中期分裂相数量是否充足，FISH检测板检测都应作为CC的辅助手段使用，因为它改善了MDS的预后分类。
