Study of Factors Regulating Mast Cell Proliferation
Study of Factors Regulating Mast Cell Proliferation
This study will examine growth factors that promote and inhibit mast cell proliferation
 resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can
 release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain.

 Patients up to 80 years of age with mastocytosis may be eligible for this 1-day study.
 Participants will have one visit at NIH lasting up to 8 hours, during which they will undergo
 the following tests and procedures:

 -  Medical history and physical examination.

 -  Laboratory studies, if medically indicated.

 -  Blood tests to identify genetic changes important in the growth, development, and
 functioning of mast cells.

 -  Bone marrow aspiration and biopsy.

 For the bone marrow procedure, the skin over the hipbone and the outer surface of the bone
 itself are numbed with local anesthesia. Then, a special needle is inserted into the hipbone
 and about 1 tablespoon of bone marrow is drawn into a syringe. Another needle is inserted
 into the same area to collect a small piece of the bone marrow. Additional procedures may
 include allergen testing, urinalysis, and 24-hour urine collection.

 Participants will receive an evaluation of their mastocytosis.
This protocol is designed to examine those growth potentiating and inhibiting factors which
 regulate mast cell number and survival in patients with mastocytosis, and to explore the
 molecular basis of the disease process in hopes of improving therapy. Patients will carry the
 diagnosis of mastocytosis based on abnormal bone marrow biopsy and aspirate, abnormal skin
 biopsy, presence of urticaria pigmentosa, and if available, elevated serum tryptase level >
 20 ng/ml and the presence of aberrant mast cell morphology and surface markers of CD2 and
 CD25. Mastocytosis patients will include children and adults from two years to 80 years of
 age. Unaffected relatives (age 2 to 80 years) may also be enrolled. The protocol is
 designated for up to a 1-year enrollment period; with only a small number of enrolled
 patients that will stay on study for more than one visit, based on investigator assessment of
 contribution to study objectives. Participants will undergo standard physical exam, medical
 history review, and blood collection for clinical and research laboratory evaluations. We
 will collect clinical data and biological specimens for research evaluation from individuals
 undergoing clinically indicated diagnostic procedures. Some patients may participate in
 research evaluations including buccal swab collection, dietary intake assessment, stool
 collection, exercise challenge, microbiome studies, and activity tracking. These studies are
 optional. Patients may be asked to re-enter this protocol at a later time for further
 follow-up.
-  PATIENT PARTICIPANT INCLUSION CRITERIA:

 Two to 80 years of age.

 Histologic evidence of increased mast cell number by bone marrow and/or skin biopsy or
 documentation of mastocytosis in the skin

 supported with a photograph of diagnostic skin lesion

 Must be under the care of a primary care physician to be enrolled.

 Ability to provide informed consent.

 PATIENT PARTICIPANT EXCLUSION CRITERIA:

 Anemia with hemoglobin less than 8 g/dL, hematocrit less than 24.

 Any condition that in the opinion of the investigator contraindicates participation in this
 study.

 RELATIVE INCLUSION CRITERIA:

 Two to 80 years of age.

 A biological relative without the diagnosis of mastocytosis by skin examination or
 histologic evidence in a skin or bone marrow biopsy

 Subject has a primary medical care provider outside the NIH

 Ability to provide informed consent.

 RELATIVE EXCLUSION CRITERIA:

 Any condition that in the opinion of the investigator contraindicates participation in this
 study.