significantGenetic finding

WHO 2022 and ICC 2022 classification updates published

Systemic Mastocytosis →

Summary

Updated diagnostic criteria add CD30 as a minor criterion, recognize BMM as a distinct subtype, account for hereditary alpha-tryptasemia, and incorporate KIT D816V VAF >=10% as a B-finding. These refine risk stratification and diagnosis.

Related genes

KITD816V (c.2468A>T)
The central driver mutation of systemic mastocytosis. Causes constitutive ligand-independent activation of the KIT receptor tyrosine kinase, driving mast cell proliferation, survival, and activation. Arises in early hematopoietic stem/progenitor cells.

Source

Grade Aexpert opinion

Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal

Valent P, Akin C, Hartmann K, et al. · HemaSphere · 2021

  • •CD30 expression added as minor SM criterion
  • •BMM defined as distinct subtype
  • •Hereditary alpha-tryptasemia recognized as confounder
DetailsDOI ↗

More from Systemic Mastocytosis

significantTreatment update

PIONEER 3-year follow-up confirms sustained avapritinib benefit in ISM

significantNew research

Swedish and Danish population-based studies reveal higher SM prevalence than expected

breakthroughTreatment update

Avapritinib FDA-approved for indolent systemic mastocytosis (PIONEER trial)

incrementalTreatment update

Avapritinib molecular responses in advanced SM: 30% achieve D816V undetectable

ID: systemic-mastocytosis-update-2Type: genetic_findingImpact: significant