Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
Conditions
Keywords
Fanconi anemia, multiple myeloma and other plasma cell neoplasms, chronic myeloproliferative disorders, myelodysplastic/myeloproliferative neoplasms
Brief summary
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
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.
Interventions
GENETICmicroarray analysis
GENETICpolymerase chain reaction
GENETICprotein expression analysis
GENETICreverse transcriptase-polymerase chain reaction
GENETICwestern blotting
OTHERchromatography
OTHERhigh performance liquid chromatography
OTHERimmunoenzyme technique
Sponsors
National Heart, Lung, and Blood Institute (NHLBI)
OHSU Knight Cancer Institute
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to 55 Years
Healthy volunteers
Yes
Inclusion criteria
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
Design outcomes
Primary
| Measure | 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 |
Countries
United States
Outcome results
None listed