Cancer in Inherited Bone Marrow Failure Syndromes
This is not medical advice. AI-assisted translation — inaccuracies may occur. Always verify the original and consult your oncologist before taking any steps.
About the trial
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer. Carriers of IBMFS pathogenic variant(s) are at increased risk of cancer. The prototype disorder is Fanconi's Anemia (FA); other IBMFS will also be studied. Objectives: To determine the types and incidence of specific cancers in patients with an IBMFS. To investigate the relevance of IBMFS pathogenic variant(s) in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers. To identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s). To determine the risk of cancer in IBMFS carriers. Eligibility: North American families with a proband with an IBMFS. IBMFS suspected by phenotype, confirmed by pathogenic variant(s) in an IBMFS gene, or by clinical diagnostic test. Fanconi's anemia: birth defects, marrow failure, early onset malignancy; positive chromosome breakage result. Diamond-Blackfan anemia: pure red cell aplasia; elevated red cell adenosine deaminase. Dyskeratosis congenita: dysplastic nails, lacey pigmentation, leukoplakia; marrow failure. Shwachman-Diamond Syndrome: malabsorption; neutropenia. Amegakaryocytic thrombocytopenia: early onset thrombocytopenia. Thrombocytopenia absent radii: absent radii; early onset thrombocytopenia. Severe Congenital Neutropenia: neutropenia, pyogenic infections, bone marrow maturation arrest. Pearson's Syndrome: malabsorption, neutropenia, marrow failure, metabolic acidosis; ringed sideroblasts. Other bone marrow failure syndromes: e.g. Revesz Syndrome, WT, IVIC, radio-ulnar synostosis, ataxia-pancytopenia. First degree relatives of IBMFS-affected subjects as defined here, i.e. siblings (half or full), biologic parents, and children. Grandparents of IBMFS-affected subjects. Patients in the general population with sporadic tumors of the types seen in the IBMFS (head and neck, gastrointestinal, and anogenital cancer), with none of the usual risk factors (e.g. smoking, drinking, HPV). Design: Natural history study, with questionnaires, clinical evaluations, clinical and research laboratory test, review of medical records, cancer surveillance. Primary endpoints are all cancers, solid tumors, and cancers specific to each type of IBMFS. Secondary endpoints are markers of pre-malignant conditions, such as leukoplakia, serum or tissue evidence of carcinogenic viruses, and bone marrow morphologic myelodyplastic syndrome or cytogenetic clones.
Original English text from ClinicalTrials.gov
Who can (and can't) join
✓ Qualifies
- •Osoby chorujące na dziedziczne zespoły niewydolności szpiku kostnego (IBMFS) lub członkowie ich rodzin, którzy mogą być zagrożeni lub są nosicielami tych zespołów.
- •Badane będą różne grupy etniczne i wiekowe, od noworodków po osoby starsze.
- •Do badania włączone zostaną rodziny z Ameryki Północnej.
- •Potwierdzone lub podejrzewane IBMFS na podstawie objawów lub badań genetycznych.
- •Osoby z ogólnej populacji, które mają raka podobnego do występującego w IBMFS, ale bez zwykłych czynników ryzyka (np. palenie, alkohol, HPV).
- •Członkowie rodziny pierwszego stopnia (rodzice, rodzeństwo, dzieci) oraz dziadkowie osób z IBMFS.
- •Szczególnie mile widziane są rodziny z rozpoznaniem Anemii Fanconiego, Anemii Diamond-Blackfan, Dyskeratosis congenita, Zespołu Shwachmana-Diamonda i innych podobnych chorób.
✗ Disqualifies
- •Osoby, które nie spełniają kryteriów kwalifikacji.
Simplified criteria — AI translation
Trial details
- Minimum age
- 1 Day
- Maximum age
- 100 Years
- Last updated (source)
- July 8, 2026
- Sex
- No restrictions
Locations (2)
National Institutes of Health Clinical Center
Bethesda, United States
National Cancer Institute - Shady Grove
Rockville, United States
Trial contact
NCI Family Study Referrals
Lisa J McReynolds, M.D.
Contact information from ClinicalTrials.gov. Contact in English.
Share this trial
Data from ClinicalTrials.gov. AI-assisted translation, last sync: 7/8/2026.
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