Splenomegaly, elevated alkaline phosphatase and mutations in the SRSF2/ASXL1/RUNX1 gene panel are strong adverse prognostic markers in patients with systemic mastocytosis

Leukemia. 2016 Dec;30(12):2342-2350. doi: 10.1038/leu.2016.190. Epub 2016 Jul 15.

Abstract

We evaluated the impact of clinical and molecular characteristics on overall survival (OS) in 108 patients with indolent (n=41) and advanced systemic mastocytosis (SM) (advSM, n=67). Organomegaly was measured by magnetic resonance imaging-based volumetry of the liver and spleen. In multivariate analysis of all patients, an increased spleen volume ⩾450 ml (hazard ratio (HR), 5.2; 95% confidence interval (CI), (2.1-13.0); P=0.003) and an elevated alkaline phosphatase (AP; HR 5.0 (1.1-22.2); P=0.02) were associated with adverse OS. The 3-year OS was 100, 77, and 39%, respectively (P<0.0001), for patients with 0 (low risk, n=37), 1 (intermediate risk, n=32) or 2 (high risk, n=39) parameters. For advSM patients with fully available clinical and molecular data (n=60), univariate analysis identified splenomegaly ⩾1200 ml, elevated AP and mutations in the SRSF2/ASXL1/RUNX1 (S/A/R) gene panel as significant prognostic markers. In multivariate analysis, mutations in S/A/R (HR 3.2 (1.1-9.6); P=0.01) and elevated AP (HR 2.6 (1.0-7.1); P=0.03) remained predictive adverse prognostic markers for OS. The 3-year OS was 76 and 38%, respectively (P=0.0003), for patients with 0-1 (intermediate risk, n=28) or 2 (high risk, n=32) parameters. We conclude that splenomegaly, elevated AP and mutations in the S/A/R gene panel are independent of the World Health Organization classification and provide the most relevant prognostic information in SM patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alkaline Phosphatase / blood*
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Female
  • Humans
  • Male
  • Mastocytosis, Systemic / diagnosis*
  • Mastocytosis, Systemic / genetics
  • Mastocytosis, Systemic / mortality
  • Mastocytosis, Systemic / pathology
  • Middle Aged
  • Mutation*
  • Prognosis
  • Repressor Proteins / genetics*
  • Serine-Arginine Splicing Factors / genetics*
  • Splenomegaly / diagnostic imaging
  • Splenomegaly / pathology*
  • Survival Rate

Substances

  • ASXL1 protein, human
  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human
  • Repressor Proteins
  • SRSF2 protein, human
  • Serine-Arginine Splicing Factors
  • Alkaline Phosphatase