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Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation

Antonia Kiwit1, Julian Trah1,2, Amelie T van der Ven3

  • 1Department of Pediatric Surgery, University Medical Center Eppendorf, Hamburg, Germany.

Pediatric Blood & Cancer
|October 22, 2025
PubMed
Summary

This study identifies the first case of a de novo germline KIT mutation causing severe neonatal systemic mastocytosis (SM). Despite treatment, the infant experienced rapid disease progression and fatal outcomes.

Keywords:
D816Vavapritinibmidostaurinsystemic mastocytosistryptase

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