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Lab Med. 2017 Aug 1;48(3):253-257. doi: 10.1093/labmed/lmx026.

R634W KIT Mutation in an Adult With Systemic Mastocytosis.

Author information

1
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA.
2
Yale University School of Medicine and Cancer Center, VA Connecticut Healthcare System, West Haven, CT.
3
Hematology/Oncology and Coagulation, Quest Diagnostics, Nichols Institute, San Juan Capistrano, CA.
4
Department of Laboratory Medicine, Yale University School of Medicine, Pathology and Laboratory Medicine, VA Connecticut Healthcare System, West Haven, CT.
5
Departments of Pathology and Laboratory Medicine, Yale University School of Medicine, Pathology and Laboratory Medicine, VA Connecticut Healthcare System, West Haven, CT.

Abstract

Mastocytosis is a clonal neoplasm with the potential to affect various organs within the body. It can range in clinical severity from benign to extremely aggressive. Mastocytosis can be separated into cutaneous, systemic, and leukemic forms, as well as mast-cell sarcoma and extracutaneous mastocytoma. It is most often an acquired condition but can be inherited; the most commonly identified genetic aberrations leading to mastocytosis are activating mutations involving codon 816 of the KIT gene. Herein, we present the case of a 30-year-old Caucasian man with systemic mastocytosis discovered to have a p.Arg634Trp mutation involving KIT. To our knowledge, this mutation has previously only been identified in children with familial urticarial pigmentosa. Ours is the the first case report in the literature of an adult with systemic mastocytosis likely due to a p.Arg634Trp KIT mutation.

KEYWORDS:

KIT; R634W; familial; germline; mastocytosis; mutation; p.Arg634Trp; pigmentosa; urticaria

PMID:
28520972
DOI:
10.1093/labmed/lmx026
[Indexed for MEDLINE]

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