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Related Experiment Video

Updated: May 8, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
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Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

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Comprehensive mutational profiling in advanced systemic mastocytosis.

Juliana Schwaab1, Susanne Schnittger, Karl Sotlar

  • 1III. Medizinische Klinik, Hämatologie und Onkologie, Universitätsmedizin Mannheim, Mannheim, Germany;

Blood
|August 21, 2013
PubMed
Summary

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Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome in <i>KIT</i> D816V-Negative Advanced Systemic Mastocytosis.

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This summary is machine-generated.

Systemic mastocytosis (SM) patients with advanced disease often have multiple additional gene mutations beyond KIT D816V. These molecular aberrations correlate with poorer overall survival, highlighting their role in SM progression and prognosis.

Area of Science:

  • Hematology
  • Molecular Biology
  • Oncology

Background:

  • Systemic mastocytosis (SM) exhibits significant clinical heterogeneity and variable treatment responses.
  • The role of additional molecular aberrations beyond the common KIT D816V mutation in SM pathogenesis is not fully understood.

Purpose of the Study:

  • To investigate the spectrum and impact of additional molecular aberrations in patients with systemic mastocytosis.
  • To correlate these genetic findings with clinical subtypes and overall survival.

Main Methods:

  • Next-generation sequencing was used to analyze hotspot regions and coding regions of multiple genes (e.g., TET2, SRSF2, ASXL1, CBL, RUNX1) in 39 KIT D816V mutated SM patients.
  • Patients were categorized into indolent SM, smoldering SM, SM with associated clonal hematologic nonmast cell lineage disorder (SM-AHNMD), aggressive SM, and mast cell leukemia.

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Last Updated: May 8, 2026

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Main Results:

  • Additional molecular aberrations were found in 89% of advanced SM patients (SM-AHNMD, aggressive SM/mast cell leukemia) compared to 25% of indolent/smoldering SM patients.
  • Advanced SM cases frequently carried multiple mutations (≥3 in 78%, ≥5 in 41%).
  • Patients with additional aberrations had significantly shorter overall survival than those with only the KIT D816V mutation (P = .019).

Conclusions:

  • The pattern of acquired gene mutations significantly influences the biology and prognosis of systemic mastocytosis.
  • Identifying additional molecular aberrations is crucial for understanding SM heterogeneity and predicting patient outcomes.