Biomarkers in Bone Marrow Samples From Patients With Acute Myeloid Leukemia

Somatic Mutations in Stem and Progenitor Cells in AML

RATIONALE: Studying samples of bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.

PURPOSE: This laboratory study is studying bone marrow samples from patients with acute myeloid leukemia.

OBJECTIVES:

• To rigorously examine fractionated hematopoietic stem and progenitor cells from patients with acute myeloid leukemia (AML).
• To define somatic mutations occurring in de novo AML, including the FLT3-ITD, CEBPA, NPM1, TET2, ASXL1, IDH1, and IDH2 mutations.
• To examine what cellular compartments (LT-HSC, ST-HSC, CMP, GMP, and MEP) contain the selected mutations and in what order those mutations occur.

OUTLINE: Archived bone marrow specimens are analyzed for sequencing and detection of mutations by Sanger-based resequencing of PCR amplicons. Results are then compared with the results of age-matched healthy controls.

DISEASE CHARACTERISTICS:

• Diagnosis of acute myeloid leukemia

• Bone marrow samples must meet 1 of the following criteria:

  • Normal karyotype from patients enrolled on ECOG-1900 archived at the ECOG Leukemia Tissue Bank

    • Live, sortable mononuclear cells prepared at the time of initial diagnosis (slow-frozen in media with 10% DMSO OR fresh cells shipped immediately

  • Age-matched healthy control samples from commercial providers

PATIENT CHARACTERISTICS:

• Not specified

PRIOR CONCURRENT THERAPY:

• Not specified