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

  • 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)
  • Published : 2015.05.18


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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