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International Journal of Hematology
Published in: International Journal of Hematology 2/2010

01-09-2010 | Original Article

Absence of gain-of-function JAK1 and JAK3 mutations in adult T cell leukemia/lymphoma

Authors: T. Kameda, K. Shide, H. K. Shimoda, T. Hidaka, Y. Kubuki, K. Katayose, Y. Taniguchi, M. Sekine, A. Kamiunntenn, K. Maeda, K. Nagata, T. Matsunaga, K. Shimoda

Published in: International Journal of Hematology | Issue 2/2010

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Abstract

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.
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Metadata
Title
Absence of gain-of-function JAK1 and JAK3 mutations in adult T cell leukemia/lymphoma
Authors
T. Kameda
K. Shide
H. K. Shimoda
T. Hidaka
Y. Kubuki
K. Katayose
Y. Taniguchi
M. Sekine
A. Kamiunntenn
K. Maeda
K. Nagata
T. Matsunaga
K. Shimoda
Publication date
01-09-2010
Publisher
Springer Japan
Published in
International Journal of Hematology / Issue 2/2010
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-010-0653-2

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