유전성 골수부전 증후군의 암

All families with a member who has one of the relevant syndromes.

• INCLUSION CRITERIA:

The participants will be affected by an IBMFS, or be members of a family with an IBMFS, and be at risk of being affected or carriers of the syndrome. Except for the rare X-linked recessive disorder (e.g. some dyskeratosis congenita patients), there should be equal numbers of male and female probands and family members. These IBMFS have been reported in most racial and ethnic groups, and thus all such groups will be included. The age range will be from birth to old age (grandparents of probands). The majority of the probands will be children (10-20% will be adults), and their parents and grandparents will be adults. All racial/ethnic groups are eligible.

INCLUSION CRITERIA for Patients:

• Fanconi s anemia.
• Diamond Blackfan anemia.
• Dyskeratosis congenita.
• Shwachman Diamond Syndrome.
• Amegakaryocytic thrombocytopenia.
• Thrombocytopenia absent radii.
• Severe Congenital Neutropenia.
• Pearson Syndrome.
• Other bone marrow failure syndromes.

Family Members of IBMFS - Affected Subjects:

-Family members include 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 are also included, specifically for Hypothesis 4. The age range will be from birth to old age (grandparents of probands).

Patients in the general population:

-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 for those tumors (e.g. smoking, drinking, HPV). These patients will be further evaluated for an IBMFS by the referring physician under the guidance of the study investigators and if diagnosed with an IBMFS or if not diagnosed but highly suspicious for an IBMFS, would be eligible for inclusion in the Field and Clinic Center cohorts.

EXCLUSION CRITERIA:

-Affected: An individual who meets any of the following criteria will be excluded from participation in this study:

• Evidence that the hematologic disorder is acquired rather than genetic. Such evidence includes temporal relation of the aplastic anemia to known marrow suppressant drugs, chemicals, toxins, or viruses (in the absence of evidence indicative of an inherited marrow failure disorder).
• Known causes of cytopenias such as autoantibodies to red cells, platelets, or neutrophils, viruses (especially hepatitis), micronutrient deficiencies, transient erythroblastopenia of childhood, and cyclic neutropenia.
• Assignment of the patient s physical findings to other syndromes or causes that are not part of the IBMFS disease spectrum.
• Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
• Unwillingness to permit access to medical records and pathology specimens.

There are no other exclusion parameters not related to the primary disease.

-Unaffected/Family Members: An individual who meets any of the following criteria will be excluded from participation in this study:

• If there is no affected individual in the family who meets the inclusion criteria
• Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
• Unwillingness to permit access to medical records and pathology specimens.