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成人T细胞白血病/淋巴瘤中的TET2突变

TET2 Mutation in Adult T-Cell Leukemia/Lymphoma.

作者信息

Shimoda Kazuya, Shide Kotaro, Kameda Takuro, Hidaka Tomonori, Kubuki Yoko, Kamiunten Ayako, Sekine Masaaki, Akizuki Keiichi, Shimoda Haruko, Yamaji Takumi, Nakamura Kenichi, Abe Hiroo, Miike Tadashi, Iwakiri Hisayoshi, Tahara Yoshihiro, Sueta Mitsue, Yamamoto Shojiro, Hasuike Satoru, Nagata Kenji, Kitanaka Akira

出版信息

J Clin Exp Hematop. 2015;55(3):145-9. doi: 10.3960/jslrt.55.145.

Abstract

Loss-of-function of ten-eleven translocation-2 (TET2) is a common event in myeloid malignancies, and plays pleiotropic roles, including augmenting stem cell self-renewal and skewing hematopoietic cells to the myeloid lineage. TET2 mutation has also been reported in lymphoid malignancies; 5.7~12% of diffuse large B-cell lymphomas and 18~83% of angioimmunoblastic T-cell lymphomas had TET2 mutations. We investigated TET2 mutations in 22 adult T-cell leukemia/lymphoma (ATLL) patients and identified a missense mutation in 3 cases (14%). TET2 mutation occurred in a number of ATLL patients and was likely involved in their leukemogenesis.

摘要

十一-易位-2(TET2)功能缺失是髓系恶性肿瘤中的常见事件,并发挥多效性作用,包括增强干细胞自我更新以及使造血细胞偏向髓系谱系。TET2突变在淋巴系恶性肿瘤中也有报道;5.7%~12%的弥漫性大B细胞淋巴瘤和18%~83%的血管免疫母细胞性T细胞淋巴瘤存在TET2突变。我们调查了22例成人T细胞白血病/淋巴瘤(ATLL)患者的TET2突变情况,在3例患者(14%)中鉴定出一个错义突变。TET2突变发生在一些ATLL患者中,可能参与了其白血病发生过程。

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