Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation

Raveendran, Sureshkumar; Sarojam, Santhi; Vijay, Sangeetha; Geetha, Aswathy Chandran; Sreedharan, Jayadevan; Narayanan, Geetha; Sreedharan, Hariharan

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자료유형: 학술저널

저자정보: Raveendran, Sureshkumar (Division of Cancer Research, Regional Cancer Centre) Sarojam, Santhi (Division of Cancer Research, Regional Cancer Centre) Vijay, Sangeetha (Division of Cancer Research, Regional Cancer Centre) Geetha, Aswathy Chandran (Division of Cancer Research, Regional Cancer Centre) Sreedharan, Jayadevan (Gulf Medical University) Narayanan, Geetha (Division of Medical Oncology, Regional Cancer Centre) Sreedharan, Hariharan (Division of Cancer Research, Regional Cancer Centre)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제16권 제9호

발행연도: 2015.1

수록면: 4,095 - 4,101 (7page)

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IDH1/2 mutations which result in alternation in DNA methylation pattern are one of the most common methylation associated mutations in Acute myeloid leukaemia. IDH1/2 mutations frequently associated with higher platelet level, normal cytogentics and NPM1 mutations. Here we analyzed IDH1/2 mutations in 200 newly diagnosed unselected Indian adult AML patients and investigated their correlation with clinical, cytogenetic parameters along with cooperating NPM1 mutation. We detected 5.5% and 4% mutations in IDH1/2 genes, respectively. Except IDH2 c.515_516GG>AA mutation, all the other identified mutations were reported mutations. Similar to reported c.515G>A mutation, the novel c.515_516GG>AA mutation replaces $172^{nd}$ arginine to lysine in the active site of the enzyme. Even though there was a preponderance of IDH1/2 mutations in NK-AML, cytogenetically abnormal patients also harboured IDH1/2 mutations. IDH1 mutations showed significant higher platelet count and NPM1 mutations. IDH2 mutated patients displayed infrequent NPM1 mutations and lower WBC count. All the NPM1 mutations in the IDH1/2 mutated cases showed type A mutation. The present data suggest that IDH1/2 mutations are associated with normal cytogenetics and type A NPM1 mutations in adult Indian AML patients.

#Acute myeloid leukaemia #IDH1 #IDH2 #Type A NPM1 mutation

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