Doaa M. Elghannam, Nashwa Khayrat Abousamra, Doaa A. Shahin, Enas F. Goda, Hanan Azzam , Emad Azmy and Manal Salah El-Din
Hematology Unit, Clinical Pathology Department, Clinical Haematology Department, Medical Oncology Department, Faculty of Medicine, Mansoura University
Posters & Accepted Abstracts: J Stem Cell Res Ther
Background: The pathogenesis of acute myeloid leukemia (AML) involves the cooperation of mutations promoting proliferation/ survival and those impairing differentiation. point mutations of the N-RAS gene are the most frequent somatic mutations causing aberrant signal-transduction in acute myeloid leukemia (AML). Objectives: To study the frequency and prognostic significance of NRAS gene mutations (NRASmut) in de novo adult AML. Methods: Bone marrow specimens from 150 patients with de novo acute myeloid leukemia and controls were analyzed by genomic PCR-SSCP at codons 12, 13 (exon 1), and 61 (exon 2) for NRAS mutations. Results: NRASmut was found in 19/150 (12.7%) AML cases, represented more frequently in the FAB subtype M4eo (P = 0.028). and at codon 12, 13 (14of 19; 73.7%). Patients with NRASmut had a significant lower peripheral, marrow blasts (P = 0.004, P=0.03) and non significant improved clinical outcome than patients without mutation. Complete remission rate was (63.2% vs 56.5%; p=0.46), resistant disease (31.5% vs 44.2%; p=0.51), 3 year overall survival (44% vs 42%; P = 0.85) and disease free survival (42.1% vs 38.9%, P = 0.74). Conclusion: NRAS gene mutation frequency and spectrum differ between biologically distinct subtypes of AML but do not significantly influence prognosis and clinical outcome.