Absence of gain-of-function JAK1 and JAK3 mutations in adult T cell leukemia/lymphoma
Absence of gain-of-function JAK1 and JAK3 mutations in adult T cell leukemia/lymphoma
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DOI：
10.1007/s12185-010-0653-2
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发表时间：
2010-09-01
影响因子：
2.1
通讯作者：
Shimoda, K.
中科院分区：
文献类型：
--
作者：
Kameda, T.;Shide, K.;Shimoda, K.
Janus kinase1(JAK1)和JAK3在淋巴细胞增殖和分化中起关键作用。体细胞JAK1突变见于18%的成人前体T淋巴细胞白血病，体细胞JAK3突变见于3.3%的皮肤T细胞淋巴瘤。其中一些突变被确认为功能获得突变，并被认为与白血病的发生有关。成人T细胞白血病/淋巴瘤(ATLL)是一种T细胞肿瘤，有时可观察到JAK/STAT通路的激活。我们研究了20例ATLL患者的JAK1和JAK3突变。未发现JAK1突变，在12例患者中观察到5种类型的单核苷酸多态，其频率与亚洲人群基本一致。在JAK3基因中，有1例发现同义突变。JAK1和JAK3突变不太可能参与ATLL的白血病发生。
Janus kinase 1 (JAK1) and JAK3 plays a critical role in lymphocyte proliferation and differentiation. Somatic JAK1 mutations are found in 18% of adult precursor T acute lymphoblastic leukemias and somatic JAK3 mutations are found in 3.3% of cutaneous T cell lymphomas. Some of the mutations are confirmed as a gain-of-function mutation and are assumed to be involved in leukemogenesis. Adult T cell leukemia/lymphoma (ATLL) is a type of T cell neoplasm, and activation of JAK/STAT pathways is sometimes observed in them. We investigated JAK1 and JAK3 mutations in 20 ATLL patients. No JAK1 mutations were found, and five types of single nucleotide polymorphisms were observed in 12 cases, whose frequencies almost match those in Asian populations. As for JAK3, a synonymous mutation was found in one case. JAK1 and JAK3 mutations are unlikely involved in the leukemogenesis of ATLL.