Table 1

Neoplasia frequently associated with IDH1 mutations

NeoplasmCases with IDH1 mutation (%)Most frequent IDH1 mutation type
Gliomas—low grade, diffuse80%8 9 20 R132H
Cytogenetically normal AML7%–14%43 R132C, R132H
Enchondromas52% (sporadic)
90% (enchondromatosis)6 38 39
R132C, R132H
Spindle cell haemangioma64%42 R132C
Cholangiocarcinoma20%–35%7 51 R132C, R132L, R132G, R132S
  • AML, acute myeloid leukaemia; IDH, isocitrate dehydrogenase.