Fanconi Anemia
Conditions
Keywords
Fanconi anemia
Brief summary
RATIONALE: Studying samples of bone marrow from patients with Fanconi anemia and from healthy participants in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to Fanconi anemia. PURPOSE: This laboratory study is evaluating gene function in bone marrow cells from patients with Fanconi anemia and from healthy participants.
Detailed description
OBJECTIVES: * Describe the complete hematopoietic transcriptomes of Fanconi cells of every common complementation group (e.g., A, C, G, and F) as well as transcriptomes of neoplastic cells derived from bone marrow of patients with Fanconi anemia. * Define large-scale dynamic gene expression data in these patients. OUTLINE: This is a multicenter study. Patients and healthy volunteers undergo bone marrow aspiration or biopsy for biological studies. Samples are analyzed for gene expression profiles using microarray assays. PROJECTED ACCRUAL: A total of 80 patients and 10 healthy volunteers will be accrued for this study.
Interventions
Sponsors
Study design
Eligibility
Inclusion criteria
DISEASE CHARACTERISTICS: * Meets 1 of the following criteria: * Diagnosis of Fanconi anemia * Requires bone marrow aspiration or biopsy for clinical purposes * Healthy volunteer * Over 18 years of age * No known blood abnormality PATIENT CHARACTERISTICS: * Platelet count \> 150,000/mm\^3 * White Blood Cell(WBC) \> 4,000/mm\^3 * Hemoglobin \> 13 g/dL * No clinical signs or symptoms of acute or subacute infection (e.g., viral, bacterial, or fungal) * No allergies to lidocaine or xylocaine PRIOR CONCURRENT THERAPY: * Not specified
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Comparison of Fanconi anemia (FA) hematopoietic cells vs normal hematopoietic cells | — |
| Comparison of FA hematopoietic cells from children with myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) vs children (siblings) with FA but without MDS/AML | — |
| Comparison of FA cells from different complementation groups | — |
Countries
United States