Immunohistochemical analysis of 1844 human epithelial and hematopoietic tumors and sarcomas for IDH1R132H mutation

Felix Sahm (1) , David Capper (1, 2) , Jochen Meyer (1) , Christian Hartmann (1) , Esther Herpel (3, 4) , Mindaugas Andrulis (1) , Gunhild Mechtersheimer (1) , Iver Petersen (5) , Werner Paulus (6) , Andreas von Deimling (1)

1 Department of Neuropathology
2 Clinical Cooperation Unit Neuropathology
3 Department of General Pathology
4 Tissue Bank
5 Institute of pathology
6 Institute of Neuropathology

Aims: Mutations in the isocitrate dehydrogenase 1 gene have been recently identified to play a key role in diffuse astrocytoma and oligodendroglioma as well as in acute myeloid leukemia. In glioma, IDH1R132H is the most common mutation type, which is associated with younger patient age and a longer patient survival compared to wild type status. Sequencing analyses of carcinomas and lymphomas have detected IDH1 mutations only in a small fraction of cases. In those studies, IDH1R132H was also the most frequent mutation. Aim of the present study was to analyze a comprehensive series of human tumors for IDH1R132H mutation. Methods and results: We stained a total of 1844 formalin-fixed paraffin-embedded tumors including carcinomas, sarcomas and hematopoietic tumors using a mutation specific antibody for IDH1R132H. Our positive control series consisted of a collection of diffuse astrocytomas and oligodendrogliomas. No IDH1R132H mutation was found in our series. Conclusions: We conclude that IDH1R132H mutations occur almost exclusively in glioma and acute myeloid leukemia.

Mots clés: Medicine

Felix Sahm, David Capper, Jochen Meyer, Christian Hartmann, Esther Herpel, et al.. Immunohistochemical analysis of 1844 human epithelial and hematopoietic tumors and sarcomas for IDH1R132H mutation. Histopathology, 2011, 58 (7), pp.1167. ⟨10.1111/j.1365-2559.2011.03823.x⟩. ⟨hal-00655185⟩