News From The National Cancer Institute

Office of Communications/Mass Media Branch, Building 31, Room 10A19, Bethesda, MD 20892, National Institutes of Health: NCI Press Office (301)496-6641.

The National Cancer Institute (NCI) is launching the largest North American study of its kind to focus on people with rare inherited bone marrow failure syndromes (IBMFS) and their immediate family members. This study, called the "NCI IBMFS Cohort," will follow families over a long period of time, and will examine the underlying genetic disorders of those diagnosed with IBMFS and their families, and analyze how certain factors can affect the course of these syndromes. Families with these disorders are invited to become part of the study, since they may be at a higher risk of cancer. These families can include previously or newly-diagnosed, affected individuals and their immediate family members, as well as surviving relatives (in families where the patient may have passed away) who may be carriers of one of the altered genes related to these diseases.

IBMFS, most often diagnosed during childhood, are relatively rare disorders that involve some form of aplastic anemia (where the bone marrow fails to produce blood cells). People with these syndromes are at increased risk of cancer such as leukemia or various specific solid tumors. The study includes family members since they, too, may be at increased risk of cancer.

The study will enroll families in which at least one member has or had an IBMFS such as:

  • Fanconi's Anemia (FA)
  • Diamond-Blackfan Anemia
  • Shwachman-Diamond Syndrome
  • Dyskeratosis congenita
  • Severe congenital neutropenia
  • Thrombocytopenia absent radii
  • Amegakaryocytic thrombocytopenia
  • Pearson's Syndrome
  • Bone marrow failure other than acquired.

The problem for families living with these conditions is the impending threat of cancer in young patients, without knowing whether it will happen or when it will happen. The challenge for researchers is understanding why cancer develops in so many people with IBMFS, why it occurs earlier than in the general population, and what the role is of IBMFS genes in carcinogenesis.

"By looking at a large group of patients and family members who may be cancer-prone, we hope to learn more about these issues, and to evaluate techniques for cancer screening and prevention in this particular group," comments Blanche Alter, M.D., M.P.H., the principal investigator at NCI. Alter has teamed with a large number of associate investigators in all specialties at the National Institute of Health and at several extramural medical centers, in order to provide a truly comprehensive evaluation to persons with these complex, multi-system disorders.

The investigators hope to enroll all North American families with these syndromes. There will be two subgroups - those who are seen and evaluated at the NIH Clinical Center in Bethesda, Maryland (called the "Clinical Center Cohort") and thos who provide medical information but are not seen at the Clinical Center (called the "Field Cohort").

Affected individuals and their immediate family members who come to the Clinical Center will receive comprehensive physical and laboratory examinations by a team of specialists, along with information and advice regarding the management of any newly identified clinical problems that are detected during the course of their last visit. Due to the high risk of cancers in this cohort, participants will be offered age-appropriate, throrough cancer surveillance as part of the study. At the participants' request, they will be given the results of clinical tests and cancer screening. The study will not provide treatment at the NIH; patients will be referred to their physicians for consideration of any treatments that may be necessary.

For further information about the study: "Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes (IBMFS), " interested individuals may call 1-800-518-8474 to speak to Lisa Leathwood, the study's research nurse, or send an email to This email address is being protected from spambots. You need JavaScript enabled to view it.. More information is also provided on the study Web site at

For more information on cancer in general, please visit NCI's Web site at