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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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1. Question
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).Reference:
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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