Charwudzi Alice, Olayemi Edeghonghon E, Ekem Ivy, Olopade Olufunmilayo, Coyle Mariann, Benneh Amma Anima, Allotey Emmanuel Alote
Department of Chemical Pathology, University of Cape Coast School of Medical Sciences, Cape Coast, Ghana.
Department of Haematology, University of Ghana Medical School, Accra, Ghana.
Adv Hematol. 2014;2014:604165. doi: 10.1155/2014/604165. Epub 2014 Sep 22.
Background. FISH is a molecular cytogenetic technique enabling rapid detection of genetic abnormalities. Facilities that can run fresh/wet samples for molecular diagnosis and monitoring of neoplastic disorders are not readily available in Ghana and other neighbouring countries. This study aims to demonstrate that interphase FISH can successfully be applied to archival methanol-fixed bone marrow and peripheral blood smear slides transported to a more equipped facility for molecular diagnosis of CML. Methods. Interphase FISH was performed on 22 archival methanol-fixed marrow (BM) and 3 peripheral blood (PB) smear slides obtained at diagnosis. The BM smears included 20 CML and 2 CMML cases diagnosed by morphology; the 3 PB smears were from 3 of the CML patients at the time of diagnosis. Six cases had known BCR-ABL fusion results at diagnosis by RQ-PCR. Full blood count reports at diagnosis were also retrieved. Result. 19 (95%) of the CML marrow smears demonstrated the BCR-ABL translocation. There was a significant correlation between the BCR-ABL transcript detected at diagnosis by RQ-PCR and that retrospectively detected by FISH from the aged BM smears at diagnosis (r = 0.870; P = 0.035). Conclusion. Archival methanol-fixed marrow and peripheral blood smears can be used to detect the BCR-ABL transcript for CML diagnosis.
背景。荧光原位杂交（FISH）是一种分子细胞遗传学技术，能够快速检测基因异常。在加纳和其他邻国，能够对新鲜/湿样本进行分子诊断和监测肿瘤性疾病的设施并不容易获得。本研究旨在证明间期FISH可成功应用于存档的甲醇固定骨髓和外周血涂片玻片，这些玻片被运送到设备更齐全的设施用于慢性粒细胞白血病（CML）的分子诊断。方法。对诊断时获得的22张存档的甲醇固定骨髓（BM）涂片和3张外周血（PB）涂片进行间期FISH检测。骨髓涂片包括20例经形态学诊断的CML和2例慢性粒-单核细胞白血病（CMML）病例；3张外周血涂片来自3例诊断时的CML患者。6例在诊断时通过实时定量聚合酶链反应（RQ-PCR）已知BCR-ABL融合结果。还检索了诊断时的全血细胞计数报告。结果。19例（95%）CML骨髓涂片显示有BCR-ABL易位。诊断时通过RQ-PCR检测到的BCR-ABL转录本与诊断时从陈旧骨髓涂片中通过FISH回顾性检测到的转录本之间存在显著相关性（r = 0.870；P = 0.035）。结论。存档的甲醇固定骨髓和外周血涂片可用于检测BCR-ABL转录本以诊断CML。
