Mutations in isocitrate dehydrogenase isoforms 1 and 2 are rare events in primary central nervous system and non-central nervous system diffuse large B cell lymphoma

Abstract

Background and aim: Mutations in isocitrate dehydrogenase enzyme isoforms 1 (IDH1) and 2 (IDH2) have been identified in many cancers, including gliomas and acute myeloid leukemia. The aim of this study was to determine whether these genes are mutated in the primary central nervous system lymphoma (PCNSL). Methods: We analyzed IDH1 and IDH2 mutations in 20 PCNSL and 30 non-central nervous system (CNS) diffuse large B-cell lymphomas (DLBCLs) using routine formalin-fixed paraffin-embedded tissues and a polymerase chain reaction assay focusing on the known mutation hot spots, Arg 132 of IDH1 and Arg 172 of IDH2. Results: We did not detect mutations in IDH1 or IDH2 in PCNSL nor non-CNS DLBCL. Conclusions: Although IDH1 and IDH2 mutations are known to be important in gliomas and in some hematologic malignancies, they appear to be very rare events in PCNS and non-CNS DLBCLs. Further studies on other IDH mutations in larger, non-CNS DLBCL populations are needed.