Patient case: 39-year-old female with melanoma; genetic feature: KIT (N822Y)

Clinical trial: Study of Factors Regulating Mast Cell Proliferation

Summary: 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.

Detailed description: 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. Medical work-up is in accordance with standard medical practice. Mastocytosis patients will be children and adults from birth to 80 years of age. 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. Patients may be asked to re-enter this protocol at a later time for further research or entry into protocol 98-I-0027. This is not a therapeutic protocol. Treatment using FDA licensed/approved drugs may be provided to patients on a case-by-case basis at the discretion of the principal investigator. and This protocol does not involve infusion of any manipulated cells, viruses or DNA constructs into human subjects.

Eligibility: -  PARTICIPANT INCLUSION CRITERIA:
  Birth 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.
  Patients must be able and willing to undergo a bone marrow biopsy. A bone marrow biopsy will be pre-empted if, during the procedure, the patient experiences significant flushing, pain, hypotension or tachycardia for any reason, which places the patient at risk. A patient may decline to have a bone marrow biopsy if the bone marrow sample is only for research purposes.
  Bone marrow biopsy will be performed on children only if medically indicated. Research samples will be collected at that time only if the procedure does not increase the risks to the child.
  PARTICIPATIENT EXCLUSION CRITERIA:
  No primary care physician.
  Anemia with hemoglobin less than 8 g/dL, hematocrit less than 24.
  RELATIVE INCLUSION CRITERIA:
  A biological relative with or 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
  RELATIVE EXCLUSION CRITERIA:
  No primary care physician.
  Anemia with hemoglobin < 8 g/dL, hematocrit < 24.

Relevance to patient case: not relevant