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Presented by Dr. Fausto Rodriguez and prepared by Daniel Miller
A 31 year-old male developed an enhancing left frontal lobe mass. What
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What molecular alteration has significant prognostic implications in the following tumor, and merits inclusion into the diagnosis under the current WHO Classification (2016)?Correct
Answer: C-IDH1 mutation
Histology: The neoplasm demonstrated parenchymal infiltration and pleomorphism consistent with an astrocytic neoplasm. Mitotic figures, and pseudopalisading necrosis with microvascular proliferation were also present.
Discussion: The tumorexpressed mutant IDH1 p.R132H protein, which was detected with a mutation specific antibody. The correct diagnosis is Glioblastoma, IDH-mutant.
Mutations in isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) genes are present in most grade II and grade III diffuse gliomas, as well as secondary glioblastomas. When present, they are associated with a better prognosis compared to IDH-wildtype tumors. Given the strong prognostic and biologic implication, IDH mutation status is added to the tumor diagnosis whenever possible (1).
1. Louis DN, Ohgaki H, Wiestler OD, et al., eds. WHO Classification of Tumours of the Central Nervous System. Lyon, France: International Agency for Research on Cancer; 2016.Incorrect
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