Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes (IBMFS)
The National Cancer Institute Institutional Review Board has given its approval to open a study entitled "Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes." The principal investigator responsible for this study is Blanche P. Alter, MD, MPH. This study is open to patients with SDS, along with their immediate families. Individuals with one of the inherited bone marrow failure syndromes, and their parents, brothers, sisters, and children, are all invited to participate. Those who come to the NIH Clinical (CC) will belong to the "CC Cohort," and those who do not will belong to the "Field Cohort." Individuals who choose to participate in the NCI IBMFS [Alter, Blanche (NCI)] Cohort Study will be asked to complete a family history questionnaire and an individual information questionnaire. Physical examinations and samples of blood, bone marrow (from those affected with the disorder), and other tissues may be requested for research studies.

Inherited bone marrow failure syndromes (IBMFS) are rare disorders in which there is usually some form of aplastic anemia (failure of the bone marrow to produce blood), associated with a family history of the same disorder. Some of these conditions have typical changes in physical appearance or in laboratory findings which suggest a specific diagnosis. There are several well-described syndromes, which can be recognized by health care experts. There are also patients who are harder to classify, but who appear to belong in this category. Patients with these syndromes have a very high risk of development of cancer [Alter, Blanche (NCI)] (leukemia or solid tumors). At the moment we cannot predict which specific patient with an IBMFS is going to develop cancer. The NCI IBMFS [Alter, Blanche (NCI)] Cohort Study will enroll North American families in which at least one member has or had an IBMFS.

The web page "marrowfailure.cancer.gov" describes the study and provides contact information. By telephone, please contact Lisa Leathwood 1-800-518-8474 or you may also contact SDSF for more information.