CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM

Am J Hematol. 2024 May;99(5):1001-1004. doi: 10.1002/ajh.27265. Epub 2024 Feb 25.

Abstract

A low allele burden (i.e., <20%) of the CALR driver mutation is found in 10.8% of CALR-mutated MPNs, mostly in essential thrombocythemia, and correlates with a milder phenotype and a more indolent evolution compared to patients with an allele burden ≥20%.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Calreticulin / genetics
  • Humans
  • Janus Kinase 2 / genetics
  • Mutation
  • Phenotype
  • Thrombocythemia, Essential* / genetics

Substances

  • Calreticulin
  • Janus Kinase 2
  • CALR protein, human