title: Prevalence and Prognostic Value of IDH1 R132 Mutation in Newly Diagnosed AML Egyptian Patients with Normal Karyotype.
abstract: Mutation in IDH1 gene was suggested to be associated with bad prognosis in cytogenetically normal AML (CN-AML). However, there are conflicting data about its prognostic impact. Besides, its prevalence and prognostic significance in Egyptian patients still not fully stated. We aimed to assess the prevalence of IDH1R132mutation in Egyptian CN-AML patients, its correlation with FAB subtypes, and clinical outcome of those patients. Sequencing of amplified IDH1 gene exon four from 50 patients was performed to detect codon R132 point mutation. High prevalence of IDH1 mutation was detected in our patients (9/50, 18 %). Mutated IDH1R132was associated with older age and higher platelets count (p= 0.04 and 0.01 respectively). The most common FAB subtype associated with mutated IDH1R132was AML-M2 followed by M4. In multivariate analysis, IDH1R132mutation was found as independent prognostic variable. It was significantly associated with lower CR and shorter OS (p= 0.06 and 0.009 respectively).
authors.affiliation: Clinical Pathology Department, Oncology Center, Mansoura Faculty of Medicine, Mansoura, Egypt.
authors.forename: Dalia
authors.initials: D
authors.lastname: Salem
authors.affiliation: Clinical Pathology Department, Oncology Center, Mansoura Faculty of Medicine, Mansoura, Egypt.
authors.forename: Sherin Abd
authors.initials: SA
authors.lastname: El-Aziz
authors.affiliation: Clinical Pathology Department, Oncology Center, Mansoura Faculty of Medicine, Mansoura, Egypt.
authors.forename: Nadia
authors.initials: N
authors.lastname: El-Menshawy
authors.affiliation: Clinical Pathology Department, Oncology Center, Mansoura Faculty of Medicine, Mansoura, Egypt.
authors.forename: Tarek
authors.initials: T
authors.lastname: Abouzeid
authors.affiliation: Medical Oncology Unit, Oncology Center, Mansoura Faculty of Medicine, Mansoura, Egypt.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Ebrahim
keywords: IDH; Mutations in AML; Normal karyotype AML