National Cancer Institute

U.S. DEPARTMENT

OF HEALTH AND

HUMAN SERVICES

National Institutes

of Health

Clinical Genetics Branch

Division of Cancer Epidemiology 

and Genetics

Inherited Bone 

Marrow Failure 

Syndromes

Studying Families with 

Rare Blood Disorders 

and Risk of Cancer
PURPOSE

The National Cancer Institute (NCI) is sponsoring 

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 large group, or cohort, is 

called the NCI IBMFS Cohort. The study’s purpose is to:

• Examine the underlying genetic disorders 

of those diagnosed with an Inherited Bone 

Marrow Failure Syndrome (IBMFS) and their 

families 

• Analyze how certain factors can affect the 

course of these syndromes, particularly the 

connection between these disorders and 

cancer

• Follow families over a period of years 

WHO IS ELIGIBLE?

People with an IBMFS often have some form of 

aplastic anemia, in which the bone marrow fails 

to produce blood. The most common of these 

inherited syndromes include:

• Fanconi Anemia

• Diamond-Blackfan Anemia

• Shwachman-Diamond Syndrome

• Dyskeratosis Congenita

• Severe Congenital Neutropenia

• Thrombocytopenia Absent Radii

• Amegakaryocytic Thrombocytopenia

• Pearson Syndrome

• Bone Marrow Failure Other Than Acquired

Although these are mostly diseases of the blood 

and bone marrow, people with these disorders 

also have a high risk of cancer, such as leukemia 

and solid tumors. 
By taking part in this long-term study, patients 

and their families can learn more about their 

condition, as well as have the opportunity for 

appropriate cancer screening. 

Adults and children with any of these diagnoses, 

as well as their close relatives, are invited to join 

the study. People who are newly diagnosed, and 

surviving relatives in families where the patient 

may have passed away are also welcome. 

SEEKING MORE ANSWERS

The NCI hopes to answer a number of questions 

about cancer in people with IBMFS, such as:

Who Which patients (and which 

relatives) will develop cancer?

What What kinds of cancer occur in 

different patients and in different 

syndromes?

Where Where does cancer appear?

When At what age are patients most 

likely to develop which kinds of 

cancer?

Why Why does cancer develop?

How How do IBMFS genes and the 

environment interact?
PARTICIPATING IN RESEARCH

Everyone who joins the NCI IBMFS Cohort will 

initially belong to the Field Cohort. Those who 

come to the NIH Clinical Center will become 

part of the Clinical Center Cohort, while those 

who do not come will remain in the Field 

Cohort.

A family contact will be asked to provide 

information about the family’s overall 

medical history. Those with the disorder and 

immediate relatives will be asked to provide 

more detailed individual medical information. 

For people in the Clinical Center Cohort, the 

NCI will offer:

• Complete physical examinations, blood 

and bone marrow studies, imaging, 

age-appropriate cancer screening and 

consultation with a team of specialists

• Genetic counseling and an opportunity to 

learn the results of mutation testing

• Results of clinical tests and cancer screening

• Education on possible ways to reduce 

cancer risk

The purpose of this study is to identify 

the relationship among genes, physical 

examination and laboratory findings, and the 

risk of getting cancer. Although treatment is 

not part of the study, options will be discussed 

with participants.

 

The NCI will also provide assistance in 

establishing care with appropriate physicians 

as needed. Study participants should remain 

under the care of their primary doctors while 

participating in the study.

 
CONTINUING THE DIALOGUE

Participants and families will be asked to 

complete a regular follow-up form in order to 

update medical and cancer information. 

It will be possible for families to change from 

the Field Cohort to the Clinical Center Cohort. 

Members of both cohorts will be able to ask 

questions and stay in communication with the 

research team. 

Anything of clinical significance that would 

change a patient’s current treatment or screening 

for cancer will be shared with participants. The 

overall findings of the study will be provided to 

participants when the analysis is completed. 

OTHER DETAILS

Confidentiality

NCI is required by Federal law not to reveal 

any information that is collected from 

study participants to anyone other than to 

persons directly involved with the study. No 

information that could allow identification 

of any specific individuals will be released or 

published.

 

Costs

All study-related medical expenses and 

travel costs to the NIH Clinical Center for 

participants and immediate family members, 

or primary caregivers, are paid by NCI. 
ABOUT THE RESEARCH TEAM

Blanche P. Alter, M.D., M.P.H., is the lead investigator 

for this study. An expert in pediatric hematology/

oncology in the NCI Clinical Genetics Branch, she 

has been caring for and studying patients with bone 

marrow failure disorders for more than 35 years. 

Co-Investigator

Sharon A. Savage, M.D., directs the dyskeratosis 

congenita component of the study. She has identified 

several new genes involved in this disorder. 

Associate Investigator

Neelam Giri, M.D., supervises all clinical aspects of 

the study. 

Other Associate Investigators

Investigators at NIH and other medical centers also 

work with our research team to provide comprehensive evaluation for people with these complex, 

multi-system disorders.

FOR MORE INFORMATION

Phone: 1-800-518-8474 and ask for the Referral Nurse

International: 301-212-5250 

 (please call collect 9 a.m. to 5 p.m. EST)

Email: NCI.IBMFS@westat.com

Web site: www.marrowfailure.cancer.gov

NIH Publication No. 13-7958

December 2012

NIH ... Turning Discovery Into Health®