Isolated bone marrow mastocytosis
ORPHA:158778· ICD-10 D47.0
Definition
A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.
- Inheritance
- Autosomal dominant, Unknown