Molecular Mechanisms and Diagnosis of Mastocytosis
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.
Inclusion Criteria:

 -  Confirmed or suspected diagnosis of mastocytosis.

 -  Ability to give informed consent (by the patient or legal guardian if minor)

 Exclusion Criteria:

 -  Inability or not willing to provide informed consent.