Cuneo A, Bigoni R, Balboni M, Carli M G, Piva N, Fagioli F, Latorraca A, Wlodarska I, van den Berghe H, Castoldi G
Institute of Hematology, University of Ferrara, Italy.
Leuk Lymphoma. 1994 Sep;15(1-2):167-72. doi: 10.3109/10428199409051693.
Fluorescent in situ hybridization (FISH) with a chromosome 12-specific pericentromeric probe was performed in 42 patients with B-cell chronic lymphocytic leukemia (CLL) and in 10 patients with hairy cell leukemia (HCL). In all cases, a normal karyotype in more than 10 metaphase cells was obtained by conventional chromosome study. FISH documented that 6/42 patients with CLL in fact had trisomy 12 in 15-49% interphase cells. Sequential FISH studies were performed in 2 cases, showing an increase of percentage of trisomic cells over a 2-month to 4-year period. Two out of 10 patients with HCL, one of whom had morphologic features consistent with a diagnosis of HCL variant, showed 5.5 and 10% interphase nuclei with three fluorescent signals, a finding suggestive of the presence of trisomy 12. Combined immunophenotyping and FISH staining in these patients with HCL documented that trisomic cells were CD11c-positive, CD13-negative, and CD2-negative. We conclude that FISH is a sensitive technique allowing for the detection of trisomy 12 in a fraction of cytogenetically normal patients affected with CLL and HCL.
对42例B细胞慢性淋巴细胞白血病（CLL）患者和10例毛细胞白血病（HCL）患者进行了使用12号染色体特异性着丝粒周围探针的荧光原位杂交（FISH）检测。在所有病例中，通过传统染色体研究在超过10个中期细胞中获得了正常核型。FISH检测显示，42例CLL患者中有6例在15%至49%的间期细胞中存在12号染色体三体。对2例患者进行了连续FISH研究，结果显示在2个月至4年的时间里三体细胞百分比增加。10例HCL患者中有2例，其中1例具有与HCL变异型诊断一致的形态学特征，其间期核中有5.5%和10%显示三个荧光信号，这一发现提示存在12号染色体三体。对这些HCL患者进行联合免疫表型分析和FISH染色显示，三体细胞CD11c阳性、CD13阴性、CD2阴性。我们得出结论，FISH是一种敏感技术，可用于检测部分细胞遗传学正常的CLL和HCL患者中的12号染色体三体。
