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Isolated bone marrow mastocytosis

MedGen UID:
1672479
•Concept ID:
C4509020
•
Neoplastic Process
Synonym: isolated bone marrow mastocytosis
SNOMED CT: Isolated bone marrow mastocytosis (1231735008)
 
Monarch Initiative: MONDO:0015558
Orphanet: ORPHA158778

Definition

A rare subtype of indolent systemic mastocytosis with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated bone marrow mastocytosis

Professional guidelines

PubMed

Systemic Mastocytosis: Advances in Diagnosis and Current Management.
Pullarkat ST, Wu W, Pullarkat V
Cancer Treat Res 2021;181:167-178. doi: 10.1007/978-3-030-78311-2_10. PMID: 34626361

Recent clinical studies

Prognosis

Mastocytosis as an unusual cause of hip fracture in an elderly woman.
Yaqoob U, Bhandari S, Cheripalli P, Tangella K, Khaliq W
WMJ 2014 Dec;113(6):246-8. PMID: 25745700

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