Activation of the Janus kinase/signal transducer and activator of transcription pathway in multiple myeloma is not related to point mutations in kinase and pseudokinase domains of JAK1

Activation of the Janus kinase/signal transducer and activator of transcription pathway in multiple myeloma is not related to point mutations in kinase and pseudokinase domains of JAK1

Author Corbi, Fernanda Cristina Autor UNIFESP Google Scholar
Oliveira, Mariana Bleker de Autor UNIFESP Google Scholar
Morelli, Vania M. Autor UNIFESP Google Scholar
Han, Sang W. Autor UNIFESP Google Scholar
Renauld, Jean-Christophe Google Scholar
Knoops, Laurent Google Scholar
Colleoni, Gisele Wally Braga Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Ludwig Inst Canc Res
Catholic Univ Louvain
Clin Univ St Luc
Abstract Considering the recent impact of tyrosine kinase inhibitors in the treatment of myeloproliferative disorders carrying a recurrent JAK2 mutation not identified in multiple myeloma (MM), this study aimed to search for mutations in kinase and pseudokinase domains of the JAK1 gene in an attempt to define any critical and recurring change that can be used as a therapeutic target. We obtained CD138 + purified cells from 27 bone marrow aspirates of untreated MM, four normal controls and four MM cell lines. After amplification of kinase and pseudokinase domains of JAK1 in cDNA samples, the fragments were automatically sequenced. Seventy-eight percent of MM cases showed at least one polymorphism, all being synonymous single nucleotide polymorphisms (SNPs), with allele frequencies consistent with previous studies in normal European, African American and Asian populations. the four cell lines also showed only synonymous SNPs. Mutations in the kinase and pseudokinase domains of the JAK1 gene do not seem to be important for activation of the Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway because we were not able to find any recurrent mutation in a case series of 27 patients and four MM cell lines.
Keywords Multyple myeloma
JAK/STAT
JAK1
mutation
Language English
Date 2014-05-01
Published in Leukemia & Lymphoma. London: Informa Healthcare, v. 55, n. 5, p. 1176-1180, 2014.
ISSN 1042-8194 (Sherpa/Romeo, impact factor)
Publisher Informa Healthcare
Extent 1176-1180
Origin http://dx.doi.org/10.3109/10428194.2013.828352
Access rights Closed access
Type Article
Web of Science ID WOS:000335217100032
URI http://repositorio.unifesp.br/handle/11600/37762

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