Patient case: 62-year-old female with mucosal melanoma; genetic feature: KIT (L576P), KIT amplification

Clinical trial: Studying Tissue and Blood Samples From Patients With Acute Myeloid Leukemia

Summary: RATIONALE: Studying samples of tissue and blood 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 research study is looking at tissue and blood samples from patients with acute myeloid leukemia.

Detailed description: OBJECTIVES:
  -  Prospectively obtain specimens required for diagnostic review and molecular characterization ensuring eligibility for CALGB Leukemia Committee Clinical trials (for clinical trials designed to enroll specific molecular subtypes, results to determine eligibility will be reported to treating physicians no more than 72 hours after specimen receipt at the repository).
  -  Determine the frequency of specific gene markers (i.e., FLT3 ITD, CBF, MLL PTD, NPM1, KIT, RAS, CEBPA, WT1, JAK2, RUNX1, TET2, CBL, IDH1 and IDH2, ASXL1, mutations, aberrant BAALC, ERG, FLT3, MN1, EVI1, and APP) over-expression and levels of promoter methylation of specific genes (e.g., ESR1, WIT1, P15, MYOD1, ID4, DPK) in defined cytogenetic subgroups of patients with acute myeloid leukemia (AML).
  -  Correlate these gene markers with clinical and laboratory parameters in these patients.
  -  Correlate these gene markers with clinical outcome (i.e., complete remission [CR], disease-free survival [DFS], cumulative incidence of relapse [CIR], and overall survival [OS]) in these patients.
  -  Identify specific microarray multi-gene expression signatures in these patients.
  -  Correlate specific microarray multi-gene expression signatures with clinical and laboratory parameters in these patients.
  -  Correlate specific microarray multi-gene expression signatures with clinical outcome (i.e., CR, DFS, CIR, and OS) in these patients.
  -  Identify specific microarray multi-microRNA (miR) expression signatures in these patients
  -  Correlate specific microarray multi-miR expression signatures with clinical and laboratory parameters in these patients.
  -  Correlate specific microarray multi-miR expression signatures with clinical outcome (i.e., CR, DFS, CIR, and OS) in these patients.
  -  Explore the relative contribution of prognostic gene markers (i.e., FLT3 ITD, MLL PTD, NPM1, KIT, RAS, CEBPA, WT1, and JAK2 mutations, and aberrant BAALC, ERG, FLT3, MN1, and EVI1 over-expression), levels of promoter methylation of specific genes (e.g., ESR1, WIT1, P15, MYOD1, ID4, DPK), and microarray gene and miR expression signatures in defined cytogenetic subgroups of AML.
  -  Determine changes in these molecular markers and microarray gene and miR expression signatures at CR and relapse and the influence that these changes have on subsequent clinical course.
  -  Correlate the relative level of nuclear pSTAT5 and pERK in bone marrow blasts with outcome (EFS, CR, DFS, OS).
  OUTLINE: This is a multicenter study.
  Previously procured and archived bone marrow aspirate samples, blood and buccal cell samples, and bone marrow biopsy slides are analyzed for FLT3 ITD, MLL PTD, NPM1, KIT, KRAS, NRAS, CEBPA, WT1, JAK2, RUNX1, TET2, ASXL1, IDH1 and IDH2, and CBL mutations, CBF fusion genes, levels of BAALC, ERG, EVI1, MN1, and APP microarray gene-expression, microRNA gene-expression signature, levels of methylation of genes silenced in AML, and genomic DNA by PCR amplification, RT-PCR, and denaturing high-performance liquid chromatography.

Eligibility: DISEASE CHARACTERISTICS:
  -  Histologically confirmed acute myeloid leukemia (AML)
  -  Tissue samples from previously untreated patients with AML considered for enrollment onto ongoing and future CALGB treatment protocols
  -  AML tissue samples from companion Leukemia Tissue Bank protocol CALGB-9665 and the companion cytogenetic protocol CALGB-8461
  -  AML diagnostic bone marrow and/or blood samples from patients enrolled on CLB-9720, CLB-9621 (all cytogenetic subtypes), and CALGB-19808 (abnormal cytogenetics only)

Relevance to patient case: not relevant