Molecular Mechanisms and Diagnosis of Mastocytosis

Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in
skin, bone marrow and internal organs. It can affect both children and adults, males and
females and individuals from all ethnic backgrounds, although precise demographic
information about the affected populations is not available as it is a rare disorder.
Mastocytosis in children is generally limited to the skin and follows a self limited course,
while it is a disorder of the hematopoietic stem cell associated with somatic mutations of
the c-kit gene in most patients with adult-onset of disease. There is no known curative
therapy for most patients with systemic mastocytosis. Recent research studies identified
several subtypes of disease with distinct clinical and pathologic features, however, a
precise understanding of the incidence as well as molecular pathology of different disease
subtypes is lacking. This study aims to examine molecular and cellular pathological aspects
of disease in patients with mastocytosis and correlate findings with clinical presentation
and prognosis. Patients will undergo a routine history and physical examination, and
diagnostic tests will be ordered as dictated by each patient's clinical presentation. Blood
and bone marrow will be obtained for diagnostic and research purposes. Genetic analysis of
the c-kit gene regulating mast cell growth and differentiation will be performed. It is
hoped that findings obtained from this study will help to design novel therapies for
mastocytosis and other disorders in which mast cells play a critical role.