Biomarkers in Patients at Risk of Developing Myelodysplastic Syndrome or Other Disorders and in Healthy Participants

Study Overview
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Brief Summary
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RATIONALE: Studying samples of blood and bone marrow in the laboratory from patients at risk of developing myelodysplastic syndrome may help doctors learn more about changes that occur in DNA and identify biomarkers related to disorders of the blood and bone marrow. PURPOSE: This research study is looking at biomarkers in patients at risk of developing myelodysplastic syndrome or other disorders and in healthy participants.

Detailed Description
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OBJECTIVES: Primary To identify novel biomarkers of disease that would help in the initial diagnosis of myelodysplastic syndromes (MDS). Secondary To understand the genesis of anemia in cancers. To identify novel biomarkers of disease that predict progression of MDS to acute myeloid leukemia. OUTLINE: Blood and bone marrow samples are collected. Hemopoietic stem cells (HSC) and progenitor cells are isolated from samples for analysis. Some of these HSC and progenitor cells are used for functional assays. From the rest of the cells, DNA, RNA, and protein is extracted for molecular analyses, including gene mutation analysis, gene methylation assays, chromatin immunoprecipitation, microarray, and real-time polymerase chain reaction.

Official Title
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Molecular and Functional Characterisation of Bone Marrow Function in Normal Subjects, Myelodysplastic Syndromes (MDS) and Secondary Disorders of Heamatopoiesis

Conditions
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Leukemia, Myelodysplastic Syndromes

Intervention / Treatment
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* Genetic: DNA methylation analysis
* Genetic: RNA analysis
* Genetic: cytogenetic analysis
* Genetic: gene expression analysis
* Genetic: mutation analysis
* Genetic: polymerase chain reaction
* Genetic: protein expression analysis
* Other: laboratory biomarker analysis


Participation Criteria
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Eligibility Criteria
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DISEASE CHARACTERISTICS: Must meet 1 of the following criteria: Being investigated for a potential blood disorder due to abnormal blood count Patients with a known blood disorder who are having a bone marrow sample taken as part of the assessment of that disorder Patients undergoing hip replacement surgery at Nuffield Orthopaedic Centre, Oxford meeting the following criteria: Not on treatment likely to impair bone marrow function No history of having had treatment likely to have impaired bone marrow function Normal blood count Archived samples from patients with known blood disorder PATIENT CHARACTERISTICS: See Disease Characteristics PRIOR CONCURRENT THERAPY: See Disease Characteristics

Ages Eligible for Study
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Minimum Age: 18 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: DNA methylation analysis|nan|
|Genetic: RNA analysis|nan|
|Genetic: cytogenetic analysis|nan|
|Genetic: gene expression analysis|nan|
|Genetic: mutation analysis|nan|
|Genetic: polymerase chain reaction|nan|
|Genetic: protein expression analysis|nan|
|Other: laboratory biomarker analysis|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of novel biomarkers of disease |  |  | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of novel biomarkers of disease progression from myelodysplastic syndromes to acute myeloid leukemia |  |  | 
| Comprehension of genesis of anemia in cancer |  |  | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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myelodysplastic syndromes, acute myeloid leukemia