JAK2 V617F 阳性原发性血小板增多症在 CD5⁻ 慢性淋巴细胞白血病患者中发生。
JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ chronic lymphocytic leukemia.
机构信息
Department of Hematology, Shanghai First People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China.
出版信息
Chin Med J (Engl). 2012 Jun;125(11):2076-9.
Coexistence of chronic lymphocytic leukemia (CLL) and essential thrombocythemia (ET) in a patient is extremely rare, with only 10 cases reported thus far in literature. This paper describes a 94-year-old male having atypical B-CLL with CD5⁻ (CD5⁻) phenotype and ET. In this patient, we performed interphase fluorescence in situ hybridization (FISH) analysis which revealed 13q14.3 deletion in 31% of B-lymphocyte nuclei and RB1 deletion in 27% of B-lymphocyte nuclei, but not in neutrophils and T-lymphocytes. Furthermore, we identified JAK2 V617F mutation in the peripheral blood nucleated cells and neutrophils, but not in the B- and T-lymphocyte populations. Therefore, it was concluded that the occurrence of CD5− B-CLL and ET in this patient was pathogenically independent.
慢性淋巴细胞白血病（CLL）和特发性血小板增多症（ET）同时存在于一位患者中极为罕见，文献中迄今仅报道了 10 例。本文描述了一例 94 岁男性患有不典型 B-CLL，其表型为 CD5⁻（CD5⁻），并伴有 ET。在该患者中，我们进行了间期荧光原位杂交（FISH）分析，结果显示 31%的 B 淋巴细胞核中存在 13q14.3 缺失，27%的 B 淋巴细胞核中存在 RB1 缺失，但在中性粒细胞和 T 淋巴细胞中未发现缺失。此外，我们在患者外周血有核细胞和中性粒细胞中鉴定出 JAK2 V617F 突变，但在 B 淋巴细胞和 T 淋巴细胞群体中未发现。因此，我们得出结论，该患者发生 CD5− B-CLL 和 ET 在发病机制上是相互独立的。
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