Elis A, Amiel A, Manor Y, Tangi I, Fejgin M, Lishner M
Department of Medicine and Hematology, Meir Hospital, Kfar Saba, Israel.
Cancer Genet Cytogenet. 1996 Nov;92(1):14-7. doi: 10.1016/s0165-4608(96)00115-x.
Essential thrombocytosis (ET) is a clonal, chronic myeloproliferative disorder (MPD) originating from a multipotent stem cell. To date no specific cytogenetic marker has been found in ET. It was recently reported that chromosomal aberrations have been detected by fluorescence in situ hybridization (FISH) in patients with normal karyotypes or nonanalyzable metaphases. Therefore, we evaluated whether trisomies 8 and 9, which are commonly found in MPDs, can be detected in ET by FISH and compared the results with chromosome analysis. Peripheral blood mononuclear cells of patients with essential thrombocytosis were studied by classical chromosome banding and by FISH. We used biotin labeled alpha satellite of chromosome 8 and biotin labeled beta satellite of chromosome 9 as probes for the FISH studies. FISH detected 5 patients with trisomy 8 and 5 with trisomy 9 of the 18 patients evaluated. No trisomy was found by cytogenetic studies. The trisomies were detected by FISH in only a minority of the cells. No correlation was found between the presence of a trisomy and clinical characteristics. FISH is a sensitive method for the detection of trisomies 8 and 9 in patients with ET. The common finding of these chromosomal aberrations in MPD suggests that genes associated with myeloid proliferation are located on these chromosomes. Standardization of interphase cytogenetics is needed before this technique can be accepted for routine use in the clinic.
原发性血小板增多症（ET）是一种起源于多能干细胞的克隆性慢性骨髓增殖性疾病（MPD）。迄今为止，在ET中尚未发现特异性细胞遗传学标志物。最近有报道称，通过荧光原位杂交（FISH）在核型正常或中期无法分析的患者中检测到了染色体畸变。因此，我们评估了MPD中常见的8号和9号染色体三体是否可通过FISH在ET中检测到，并将结果与染色体分析进行比较。通过经典染色体显带和FISH研究了原发性血小板增多症患者的外周血单个核细胞。我们使用生物素标记的8号染色体α卫星和生物素标记的9号染色体β卫星作为FISH研究的探针。在评估的18例患者中，FISH检测到5例8号染色体三体和5例9号染色体三体。细胞遗传学研究未发现三体。三体仅在少数细胞中通过FISH检测到。三体的存在与临床特征之间未发现相关性。FISH是检测ET患者8号和9号染色体三体的一种敏感方法。MPD中这些染色体畸变的常见发现表明，与髓系增殖相关的基因位于这些染色体上。在该技术被临床常规应用之前，需要对间期细胞遗传学进行标准化。
