Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma

Study Overview
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Brief Summary
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RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of blood cancers. PURPOSE: The purpose of this study is to analyze in the laboratory blood and bone marrow cells from healthy volunteers or patients with Fanconi anemia, myeloproliferative disorders, or myeloma.

Detailed Description
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OBJECTIVES: Identify the specific molecular function of the Fanconi anemia (FA) complementing gene products in hematopoietic progenitor cells from patients and normal volunteers. Identify functional defects in hematopoietic stromal cells, including macrophages, from patients with FA, and selected blood cancers as well as normal volunteers. OUTLINE: Peripheral blood mononuclear leukocytes, skin fibroblasts, and marrow fibroblasts are collected for loss-of-function and gain-of-function analysis related to the Fanconi anemia complementing gene.

Official Title
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Dysregulation of Hematopoiesis in Fanconi Anemia

Conditions
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Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms

Intervention / Treatment
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* Genetic: microarray analysis
* Genetic: polyacrylamide gel electrophoresis
* Genetic: polymerase chain reaction
* Genetic: protein expression analysis
* Genetic: reverse transcriptase-polymerase chain reaction
* Genetic: western blotting
* Other: chromatography
* Other: high performance liquid chromatography
* Other: immunoenzyme technique


Participation Criteria
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Eligibility Criteria
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DISEASE CHARACTERISTICS: Meets 1 of the following criteria: Diagnosis of one of the following: Fanconi's anemia requiring bone marrow biopsy as part of standard care (adults and children) Myeloproliferative disorder or myeloma (adults) Healthy volunteer, meeting 1 of the following criteria: Over 18 years of age Bone marrow transplant donor (children) PATIENT CHARACTERISTICS: Hemoglobin > 13 g/dL White blood cells (WBC) > 4,000/mm³ Platelet count > 150,000/mm³ No clinical signs or symptoms of acute or subacute infections (viral, bacterial, or fungal) No known blood abnormality (healthy volunteers) No allergies to lidocaine or xylocaine PRIOR CONCURRENT THERAPY: Not specified

Ages Eligible for Study
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Minimum Age: 1 Year
Maximum Age: 55 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Genetic: microarray analysis|nan|
|Genetic: polyacrylamide gel electrophoresis|nan|
|Genetic: polymerase chain reaction|nan|
|Genetic: protein expression analysis|nan|
|Genetic: reverse transcriptase-polymerase chain reaction|nan|
|Genetic: western blotting|nan|
|Other: chromatography|nan|
|Other: high performance liquid chromatography|nan|
|Other: immunoenzyme technique|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Loss of function analyses |  | Duration of the study | 
| Proteins binding to Fanconi anemia, complementation group C (FACC) gene-product by affinity chromatography of nuclear and whole cell lysates of normal cells |  | Duration of the study | 
| Screening of proteins binding to FACC gene-product using monoclonal antibodies specific to signal transduction and cell cycle proteins |  | Duration of the study | 
| Microsequencing of unique proteins |  | Duration of the study | 
| Location of specific downstream block point imposed by antisense molecules using antibodies specific to signal transduction, cell cycle, or repair proteins for the FACC protein |  | Duration of the study | 
| Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood |  | Duration of the study | 
| Identification of functional defects in Fanconi anemia hematopoietic stromal cells |  | Duration of the study | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Fanconi anemia, multiple myeloma and other plasma cell neoplasms, chronic myeloproliferative disorders, myelodysplastic/myeloproliferative neoplasms