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Indian Journal of Hematology and Blood Transfusion

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01-03-2017 | Original Article

Prevalence and Prognostic Value of IDH1 R132 Mutation in Newly Diagnosed AML Egyptian Patients with Normal Karyotype

Authors: Dalia Salem, Sherin Abd El-Aziz, Nadia El-Menshawy, Tarek Abouzeid, Mohamed Ebrahim

Published in: Indian Journal of Hematology and Blood Transfusion | Issue 1/2017

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 IDH1^R132 mutation 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 IDH1^R132 was associated with older age and higher platelets count (p = 0.04 and 0.01 respectively). The most common FAB subtype associated with mutated IDH1^R132 was AML-M2 followed by M4. In multivariate analysis, IDH1^R132 mutation was found as independent prognostic variable. It was significantly associated with lower CR and shorter OS (p = 0.06 and 0.009 respectively).

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Title: Prevalence and Prognostic Value of IDH1 R132 Mutation in Newly Diagnosed AML Egyptian Patients with Normal Karyotype
Authors: Dalia Salem
Sherin Abd El-Aziz
Nadia El-Menshawy
Tarek Abouzeid
Mohamed Ebrahim
Publication date: 01-03-2017
Publisher: Springer India
Published in: Indian Journal of Hematology and Blood Transfusion / Issue 1/2017
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI: https://doi.org/10.1007/s12288-016-0649-z

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