29 Citations (Scopus)

Abstract

Familial thrombocytosis can be divided into two broad categories. The first includes inherited syndromes that affect only the megakaryocytic lineage with Mendelian inheritance, high penetrance and polyclonal haematopoiesis. The second category includes inherited predisposition to true Philadelphia-negative myeloproliferative neoplasms (MPN) and is characterized by low penetrance, clonal haematopoiesis and presence of somatic mutations such as JAK2 V617F. It must be underlined that these two categories represent two well separate entities, with different patterns of proliferation and different transmission modalities. This review will focus on the molecular pathogenesis of hereditary thrombocytosis, underlining those clinical pictures that are specifically associated with mutations in the genes of thrombopoietin or in its receptor. Moreover, we propose an approach for the diagnosis and therapy of these syndromes.
Original languageEnglish
Pages (from-to)701-712
Number of pages12
JournalBritish Journal of Haematology
Volume152
DOIs
Publication statusPublished - 2011

Keywords

  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Receptors, Thrombopoietin
  • Thrombocytosis
  • Thrombopoietin

Fingerprint

Dive into the research topics of 'Advances in understanding the pathogenesis of familial thrombocythaemia'. Together they form a unique fingerprint.

Cite this