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Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V(+) advanced

M Jawhar1, J Schwaab1, S Schnittger2

  • 1Department of Hematology and Oncology, University Medical Centre Mannheim, Mannheim, Germany.

Leukemia
|October 15, 2015
PubMed

Insights

In advanced systemic mastocytosis (SM), additional gene mutations beyond KIT D816V impact patient survival. Mutations in SRSF2, ASXL1, and RUNX1 genes are linked to poorer overall survival (OS) in these patients.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Most patients with advanced systemic mastocytosis (SM) harbor the KIT D816V mutation alongside other somatic mutations.
  • The prognostic significance of these additional mutations in KIT D816V(+) advanced SM requires clarification.

Purpose of the Study:

  • To investigate the prognostic impact of additional somatic mutations in patients with KIT D816V(+) advanced systemic mastocytosis.
  • To identify specific mutated genes and their association with overall survival (OS) and clinical characteristics.

Main Methods:

  • Genotype and clinical data from 70 multi-mutated KIT D816V(+) advanced SM patients were analyzed.
  • Univariate and multivariate analyses were performed to assess the impact of gene mutations on OS.

Main Results:

  • The most frequent mutations were TET2, SRSF2, ASXL1, RUNX1, and JAK2.
  • Mutations in SRSF2, ASXL1, and RUNX1 were significantly associated with adverse overall survival (OS).
  • The number of mutated genes within the SRSF2/ASXL1/RUNX1 (S/A/R) panel strongly correlated with inferior OS and adverse clinical features.

Conclusions:

  • The presence and number of mutations in the S/A/R gene panel are adverse prognostic indicators in KIT D816V(+) advanced SM.
  • Molecular markers, particularly S/A/R panel mutations, should be incorporated into future prognostic scoring systems for SM.

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