Molecular diagnosis of mast cell disorders: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology.

Mastocytosis is a disease characterized by pathological mast cell accumulation and activation in tissues. Most patients with mastocytosis exhibit the D816V point mutation in the tyrosine kinase domain of the transmembrane receptor protein Kit, leading to its constitutive activation in bone marrow or lesional skin tissue. Detection of a codon 816 c-kit mutation is included as a minor diagnostic criterion in the World Health Organization's diagnostic criteria for systemic mastocytosis. Determining mutational status of the c-kit gene also has pharmacogenomic implications in patients considered for investigational mast cell cytoreductive therapies. This article reviews diagnostic and therapeutic implications of c-kit mutations as well as other less common molecular abnormalities observed in mast cell disease.