A Pilot Study to Characterize the Genomic and Epigenomic Signature of NPM Positive Vs. NPM Negative NCL
- Determine gene expression, genome integrity, cytosine methylation, and chromatin
structure in patients with normal cytogenetics leukemia (NCL) acute myeloid leukemia.
- Determine whether NCL can be deconstructed into specific disease entities by analysis
of the integrated genomic and epigenomic datasets using supervised and unsupervised
methods in these patients.
- Identify the gene pathways that define NCL subtypes and molecular targets for
validation in preclinical and clinical trials for these patients.
- Determine whether integrated analysis provides markers of prognostic and therapeutic
response that accurately predicts clinical outcome and can be used to select patients
for risk-stratified therapeutic trials.
OUTLINE: This is a pilot, multicenter study.
Samples are analyzed to assess array comparative genomic hybridization using polymerase
chain reaction (PCR) and fluorescent in situ hybridization; chromatin immunoprecipitations
(chip) using PCR; Hpa II tiny fragment enrichment by ligation-mediated PCR (HELP) using DNA
methylation analysis; and gene expression profiling.
PROJECTED ACCRUAL: A total of 32 patients will be accrued for this study.
Nucleophosmin exon 12 mutation-related normal cytogenetics leukemia (NCL) has a specific genetic and epigenetic profile
Ari M. Melnick, MD
Albert Einstein College of Medicine of Yeshiva University