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Advances in understanding the pathogenesis of familial myeloproliferative neoplasms
Author(s) -
Rumi Elisa,
Cazzola Mario
Publication year - 2017
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.14713
Subject(s) - germline , genetics , germline mutation , myeloproliferative neoplasm , mutation , gene duplication , myeloid , biology , disease , medicine , cancer research , gene , immunology , myelofibrosis , bone marrow , pathology
Summary Myeloproliferative neoplasms ( MPNs ) are generally acquired as a result of a somatic stem cell mutation leading to clonal expansion of myeloid precursors. In addition to sporadic cases, familial MPN occurs when one or several MPN affect different relatives of the same family. MPN driver mutations ( JAK 2 , CALR , MPL ) are somatically acquired also in familial cases, so a genetic predisposition to acquire one of the MPN driver mutations would be inherited, even though the causative germline mutations underlying familial MPN remain largely unknown. Recently some germline variants [ ATG 2B and GSKIP duplication, RBBP 6 mutations, SH 2B3 ( LNK ) mutations], which can cause familial MPN , have been reported but these mutations are rare and do not explain most familial cases. Patients with familial MPN show the same clinical features and suffer the same complications as those with sporadic disease. This review aims to offer up‐to‐date information regarding the genetics of familial MPN .