NF1 inactivation in adult acute myelogenous leukemia.

ABSTRACT:

Purpose

This study was conducted to identify novel genes with importance to the biology of adult acute myelogenous leukemia (AML).

Experimental design

We analyzed DNA from highly purified AML blasts and paired buccal cells from 95 patients for recurrent genomic microdeletions using ultra-high density Affymetrix single nucleotide polymorphism 6.0 array-based genomic profiling.

Results

Through fine mapping of microdeletions on 17q, we derived a minimal deleted region of approximately 0.9-Mb length that harbors 11 known genes; this region includes Neurofibromin 1 (NF1). Sequence analysis of all NF1 coding exons in the 11 AML cases with NF1 copy number changes identified acquired truncating frameshift mutations in two patients. These NF1 mutations were already present in

SUBMITTER: Parkin B 

PROVIDER: S-EPMC2921448 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature