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慢性白细胞增多和持续性血小板增多患者的遗传改变。

Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis.

机构信息

Department of Hematology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.

出版信息

J Genet. 2022;101.

Abstract

To elucidate the relevance of genetic alterations, we analysed 17 genes known to be involved in haematological neoplasms in patients with chronic leucocytosis and patients with persistent thrombocytosis. Mutations of the , and genes were found in 1/13, 1/13, and 2/13 patients with leucocytosis, respectively. Mutations of the , , and genes were found in 1/5, 1/5, 1/5 and 2/5 patients with thrombocytosis, respectively. One leucocytosis patient with a V617F mutation developed polycythaemia vera. Another leucocytosis patient developed Philadelphia chromosome-negative chronic myeloid leukaemia (Ph(-) CML) accompanied by t(9;12)(q34.1;p13.?3) (Mori . 2016). Another leucocytosis patient with mutations of the and genes progressed to blast crisis of Ph(-) CML accompanied by i(17)(q10). Chronic leucocytosis patients who had genetic alterations tended to develop haematological neoplasms, while thrombocytosis unexpectedly resolved in two persistent thrombocytosis patients with genetic alterations.

摘要

为了阐明遗传改变的相关性,我们分析了 17 个已知与慢性白细胞增多症患者和持续性血小板增多症患者血液肿瘤相关的基因。在白细胞增多症患者中,分别有 1/13、1/13 和 2/13 患者存在 、 和 基因的突变。在血小板增多症患者中,分别有 1/5、1/5、1/5 和 2/5 患者存在 、 、 和 基因的突变。一名携带 V617F 突变的白细胞增多症患者发展为真性红细胞增多症。另一名白细胞增多症患者发展为伴有 t(9;12)(q34.1;p13.?3)(Mori. 2016)的费城染色体阴性慢性髓性白血病(Ph(-) CML)。另一名携带 和 基因突变的白细胞增多症患者进展为伴有 i(17)(q10)的 Ph(-) CML 急变期。存在遗传改变的慢性白细胞增多症患者倾向于发展为血液肿瘤,而两名存在遗传改变的持续性血小板增多症患者的血小板增多症意外缓解。

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