Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.

ABSTRACT:

Background

Mastocytosis associated with germline KIT activating mutations is exceedingly rare. We report the unique clinicopathologic features of a patient with systemic mastocytosis caused by a de novo germline KIT K509I mutation.

Objectives

We sought to investigate the effect of the germline KIT K509I mutation on human mast cell development and function.

Methods

Primary human mast cells derived from CD34(+) peripheral blood progenitors were examined for growth, development, survival, and IgE-mediated activation. In addition, a mast cell transduction system that stably expressed the KIT K509I mutation was established.

Results

KIT K509I biopsied mast cells were round, CD25(-), and well differentiated. KIT K509I progenitors cultured in stem cell factor (SCF) dem

SUBMITTER: Chan EC 

PROVIDER: S-EPMC4125511 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature