Advances in understanding the pathogenesis of familial myeloproliferative neoplasms

Research output: Contribution to journalReview articlepeer-review


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 (JAK2, 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 [ATG2B and GSKIP duplication, RBBP6 mutations, SH2B3 (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.

Original languageEnglish
Pages (from-to)689-698
Number of pages10
JournalBritish Journal of Haematology
Issue number5
Publication statusPublished - Sep 1 2017


  • CALR
  • familial
  • JAK2
  • MPL
  • myeloproliferative neoplasm

ASJC Scopus subject areas

  • Hematology


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