LNK mutations and myeloproliferative disorders

Mary Frances McMullin, Holger Cario

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

The lymphocyte adaptor protein (LNK) is one of a family of adaptor proteins involved cell signalling and control of B cell populations. It has a critical role in regulation of signalling in hematopoiesis. Lnk negatively regulates cytokine initiated cell signalling and it functions as a negative regulator of the mutant protein in myeloproliferative neoplasms JAK2V617F. A number of mutations in LNK have been described in a variety of myeloproliferative neoplasms some of which have been demonstrated to cause increased cellular proliferation. The majority of mutations occur in exon 2. In a small number of cases idiopathic erythrocytosis with subnormal erythropoietin levels LNK mutations have been found which may account for the clinical phenotype. Thus investigation for LNK mutations should be considered in the investigation of idiopathic erythrocytosis and perhaps other myeloproliferative neoplasms.
Original languageEnglish
JournalAmerican Journal of Hematology
Volume91
Issue number2
Early online date22 Jan 2016
DOIs
Publication statusPublished - Feb 2016

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