Association of The IDH1 C.395G>A (R132H) Mutation with Histological Type in Malay Brain Tumors

Yusoff, Abdul Aziz Mohamed; Zulfakhar, Fatin Najwa; Sul'ain, Mohd Dasuki; Idris, Zamzuri; Abdullah, Jafri Malin

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저자정보: Yusoff, Abdul Aziz Mohamed (Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus) Zulfakhar, Fatin Najwa (School of Health Sciences, Universiti Sains Malaysia, Health Campus) Sul'ain, Mohd Dasuki (School of Health Sciences, Universiti Sains Malaysia, Health Campus) Idris, Zamzuri (Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus) Abdullah, Jafri Malin (Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제17권 제12호

발행연도: 2016.1

수록면: 5,195 - 5,201 (7page)

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Background: Brain tumors, constituting one of the most deadly forms of cancer worldwide, result from the accumulation of multiple genetic and epigenetic alterations in genes and signaling pathways. Isocitrate dehydrogenase enzyme isoform 1 (IDH1) mutations are frequently identified in primary brain tumors and acute myeloid leukemia. Studies on IDH1 gene mutations have been extensively performed in various populations worldwide but not in Malaysia. This work was conducted to study the prevalence of IDH1 c.395G>A (R132H) hotspot mutations in a group of Malaysian patients with brain tumors in order to gain local data for the IDH1 mutation profile in our population. Methods: Mutation analysis of c.395G>A (R132H) of IDH1 was performed in 40 brain tumor specimens by the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) and then verified by direct sequencing. Associations between the IDH1 c.395G>A (R132H) mutation and clinicopathologic characteristics were also analyzed. Results: The IDH1 c.395G>A (R132H) mutation was detected in 14/40 patients (35%). A significant association was found with histological tumor types, but not with age, gender and race. Conclusions: IDH1 is frequently mutated and associated with histological subtypes in Malay brain tumors.

#Brain tumors #IDH1 mutation #Malaysia

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Yusoff, Abdul Aziz Mohamed

소속기관 Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus