Protocol Number: 02-C-0052
Patients with an IBMFS and their family members are eligible for this study. Participants must provide written permission for the study investigators to 1) obtain medical records and pathology material (tissue samples) from hospitals or clinics where the patient has been treated for blood diseases, tumors, cancer, birth defects, or other illnesses; and 2) obtain medical records and pathology materials from deceased relatives for whom the patient or family member is the legally authorized representative. Participants will complete a family history questionnaire and individual information questionnaire at the start of the study and provide updates annually. In addition, the following tissue samples may be requested: blood or cheek cells, tissue from a scheduled bone marrow procedure, and tumor tissue from prior biopsies or cancer surgeries. Instructions for sending specimens will be provided. Additional samples for research may be requested over time as tests or surgeries are done as part of the patient's standard medical care. Patients who agree to participate in a second part of this study will travel to the NIH Clinical Center for a comprehensive clinical and laboratory evaluation and screening for cancer or pre-cancerous conditions. The evaluation will include a detailed medical history, complete physical examination, cancer screening, and routine tests that are part of the standard medical management of persons with, or at risk of, the particular disorder. These include blood drawing, bone marrow aspirate and biopsy, urinalysis, stool examination, diagnostic X-rays and scans, and biopsies of tumors or pre-cancerous sites. In addition, special consultations may be requested depending on the individual's medical condition. These may include audiology, cardiology, social work, dentistry, dermatology, endocrinology, gastroenterology, gynecology, hematology, nephrology (kidney), neurology, ophthalmology, otorhinolaryngology (ear, nose and throat), physiatry, radiology and nuclear medicine and urology. Finally, patients and family members may choose to participate in a part of the study to identify the specific genetic alteration (mutation) responsible for the IBMFS affecting them in order to learn whether knowing the mutation makes it possible to predict 1) the severity of disease or 2) which medical problems that can arise with the disorder are likely to affect a given patient. Genetic testing will be done on tissue samples already provided for the study, and confirmed on new samples. Patients and family members who want to learn the results of the genetic tests will receive face-to-face genetic counseling either at the NIH Clinical Center or from a counselor in their home community.
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