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

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

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.

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.

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