Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms

Leukemia. 2016 Feb;30(2):431-8. doi: 10.1038/leu.2015.277. Epub 2015 Oct 9.

Abstract

A quarter of patients with essential thrombocythemia or primary myelofibrosis carry a driver mutation of CALR, the calreticulin gene. A 52-bp deletion (type 1) and a 5-bp insertion (type 2 mutation) are the most frequent variants. These indels might differentially impair the calcium binding activity of mutant calreticulin. We studied the relationship between mutation subtype and biological/clinical features of the disease. Thirty-two different types of CALR variants were identified in 311 patients. Based on their predicted effect on calreticulin C-terminal, mutations were classified as: (i) type 1-like (65%); (ii) type 2-like (32%); and (iii) other types (3%). Corresponding CALR mutants had significantly different estimated isoelectric points. Patients with type 1 mutation, but not those with type 2, showed abnormal cytosolic calcium signals in cultured megakaryocytes. Type 1-like mutations were mainly associated with a myelofibrosis phenotype and a significantly higher risk of myelofibrotic transformation in essential thrombocythemia. Type 2-like CALR mutations were preferentially associated with an essential thrombocythemia phenotype, low risk of thrombosis despite very-high platelet counts and indolent clinical course. Thus, mutation subtype contributes to determining clinical phenotype and outcomes in CALR-mutant myeloproliferative neoplasms. CALR variants that markedly impair the calcium binding activity of mutant calreticulin are mainly associated with a myelofibrosis phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Calcium / metabolism
  • Calreticulin / genetics*
  • Cells, Cultured
  • Exons
  • Female
  • Humans
  • Isoelectric Point
  • Male
  • Megakaryocytes / metabolism
  • Middle Aged
  • Mutation*
  • Primary Myelofibrosis / genetics*
  • Primary Myelofibrosis / metabolism
  • Thrombocythemia, Essential / genetics*
  • Thrombocythemia, Essential / metabolism

Substances

  • Calreticulin
  • Calcium