From Janus kinase 2 to calreticulin

The clinically relevant genomic landscape of myeloproliferative neoplasms

Mario Cazzola, Robert Kralovics

Research output: Contribution to journalArticle

104 Citations (Scopus)

Abstract

Our understanding of the genetic basis of myeloproliferative neoplasms began in 2005, when the JAK2 (V617F) mutation was identified in polycythemia vera, essential thrombocythemia, and primary myelofibrosis. JAK2 exon 12 and MPL exon 10 mutations were then detected in subsets of patients, and subclonal driver mutations in other genes were found to be associated with disease progression. Recently, somatic mutations in the gene CALR, encoding calreticulin, have been found in most patients with essential thrombocythemia or primary myelofibrosis with nonmutated JAK2 and MPL. The JAK-STAT pathway appears to be activated in all myeloproliferative neoplasms, regardless of founding driver mutations. These latter, however, have different effects on clinical course and outcomes. Thus, evaluation of JAK2, MPL, and CALR mutation status is important not only for diagnosis but also for prognostication. These genetic data should now also be considered in designing clinical trials.

Original languageEnglish
Pages (from-to)3714-3719
Number of pages6
JournalBlood
Volume123
Issue number24
DOIs
Publication statusPublished - Jun 12 2014

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Janus Kinase 2
Calreticulin
Exons
Mutation
Gene encoding
Essential Thrombocythemia
Neoplasms
Primary Myelofibrosis
Genes
Polycythemia Vera
Disease Progression
Clinical Trials

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Immunology
  • Hematology

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From Janus kinase 2 to calreticulin : The clinically relevant genomic landscape of myeloproliferative neoplasms. / Cazzola, Mario; Kralovics, Robert.

In: Blood, Vol. 123, No. 24, 12.06.2014, p. 3714-3719.

Research output: Contribution to journalArticle

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