Sequential evaluation of CALR mutant burden in patients with myeloproliferative neoplasms

Oncotarget. 2017 May 16;8(20):33416-33421. doi: 10.18632/oncotarget.16797.

Abstract

We investigated the variation of CALR-mutant burden during follow-up in 105 CALR-mutant MPN and compared it to the variation of JAK2-mutant burden in 226 JAK2-mutant MPN.The median allele burden at last evaluation was significantly higher than at first evaluation in essential thrombocythemia (ET) (49.5% vs 45%, P < .001) but not in primary myelofibrosis (PMF) (52% vs 51%, P 0.398). Median values of slope were positive both in ET (0.071) and in PMF (0.032). In CALR-mutant ET there was a difference between natural and therapy-related slope (P 0.006).In the JAK2-mutated cohort, the median allele burden at last evaluation was not different respect to that at first evaluation, neither in ET (22.9% vs 23.2%, P = 0.216) nor in PMF (50.5% vs 45.0%, P = 0.809), despite a positive slope. Multivariate analysis to evaluate the effect of mutation (CALR vs JAK2) on the slope of mutant burden in not treated pts with a positive slope adjusting for diagnosis (ET vs PMF) showed a trend toward a higher increase of mutant burden in CALR vs JAK2 (β = 0.19, P = 0.061) with no difference between diagnosis (P = 0.419). The findings of this study suggest that clonal expansion in CALR-mutant MPN is faster than that observed in JAK2-mutant MPN.

Keywords: CALR; JAK2; burden; myeloproliferative; sequential.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Biomarkers
  • Calreticulin / genetics*
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Gene Frequency
  • Genotype
  • Humans
  • Janus Kinase 2 / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Myeloproliferative Disorders / diagnosis
  • Myeloproliferative Disorders / genetics*
  • Prognosis
  • Young Adult

Substances

  • Biomarkers
  • Calreticulin
  • JAK2 protein, human
  • Janus Kinase 2