Gargallo Patricia, Cacchione Roberto, Chena Christian, Dupont Juan, Garay Guy, Riveros Dardo, Larripa Irene, Slavutsky Irma
Departamento de Genética, Academia Nacional de Medicina, Pacheco de Melo 3081, Buenos Aires 1425, Argentina.
Cancer Genet Cytogenet. 2005 Aug;161(1):74-7. doi: 10.1016/j.cancergencyto.2005.01.008.
We describe the cytogenetic, fluorescence in situ hybridization (FISH), and molecular findings in a patient who developed a typical chronic lymphocytic leukemia (CLL) 20 months after the diagnosis of a Philadelphia (Ph)-positive chronic myeloid leukemia. Unstimulated bone marrow culture showed a 46,XX,t(9;22)(q34;q11) karyotype, and interphase FISH detected the presence of a BCR/ABL fusion signal in 13% of cells. On stimulated bone marrow culture, a normal karyotype and a 13q14 deletion by interphase FISH with D13S319 probe in 14% of the cells were found. Molecular studies detected the chimeric BCR/ABL messengers by nested reverse-transcriptase polymerase chain reaction. The B-cellular clone was documented by the presence of a clonal heavy chain immunoglobulin rearrangement. The coexistence of these two hematologic malignancies leads to questions about their cell(s) of origin. We provide evidence that CLL arose in a Ph-negative clone. The implications of these findings are discussed.
我们描述了一名患者的细胞遗传学、荧光原位杂交(FISH)及分子学检查结果。该患者在诊断为费城(Ph)阳性慢性髓性白血病20个月后,发生了典型的慢性淋巴细胞白血病(CLL)。未刺激的骨髓培养显示核型为46,XX,t(9;22)(q34;q11),间期FISH检测发现13%的细胞存在BCR/ABL融合信号。在刺激的骨髓培养中,发现核型正常,且用D13S319探针进行间期FISH检测发现14%的细胞存在13q14缺失。分子学研究通过巢式逆转录聚合酶链反应检测到嵌合的BCR/ABL信使核糖核酸。通过存在克隆性重链免疫球蛋白重排证实了B细胞克隆的存在。这两种血液系统恶性肿瘤的共存引发了关于其起源细胞的问题。我们提供证据表明CLL起源于Ph阴性克隆。讨论了这些发现的意义。