Diagnostic revision of 206 adult gliomas (including 40 oligoastrocytomas) based on ATRX, IDH1/2 and 1p/19q status.

Marta Mellai, Laura Annovazzi, Rebecca Senetta, Carmine Dell'Aglio, Marta Mazzucco, Paola Cassoni, Davide Schiffer

Research output: Contribution to journalArticle

Abstract

The diagnosis of 206 low and high grade adult gliomas, including 40 oligoastrocytomas, was revised based on the immunohistochemical reactivity for the ATRX protein, IDH1/2 mutation status and 1p/19q chromosomal status. All oligodendrogliomas kept the initial diagnosis. Astrocytomas did not change diagnosis in 30 of 36 cases (83.3 %); four of 36 (11.1 %) cases were reclassified as oligodendroglioma, one (2.8 %) as DNT and the other (2.8 %) as reactive gliosis. Oligoastrocytomas changed diagnosis in 35 of 40 (87.5 %) cases, being reclassified 22 of 40 (55 %) as astrocytoma, 11 of 40 (27.5 %) as oligodendroglioma and two of 40 (5 %) as reactive gliosis. Four (10 %) remained unclassifiable. In one case only (2.5 %), the diagnosis of oligoastrocytoma could not be excluded since tumor astrocytes and tumor oligodendrocytes coexisted in mixed tumor areas. In the GBM tumor subgroup, GBMO disappeared because they were not substantiated by molecular genetics. Pilocytic astrocytomas retained ATRX expression. Loss of nuclear ATRX protein expression was strongly associated to IDH1/2 mutations (p = 0.0001) and mutually exclusive with total 1p/19q co-deletion (p = 0.0001). In astrocytic tumors, loss of immunoreactivity for the ATRX protein was significantly associated to the ALT phenotype (p = 0.0003). The constitutive ATRX expression in microglia/macrophages may be misleading, especially in the identification of an oligodendroglial tumor infiltration. Of paramount importance in the recognition of oligodendroglial and astrocytic tumor cells were the double immunostainings for ATRX/GFAP, ATRX/IDH1(R132H), ATRX/Iba-1 and ATRX/CD68.
Original languageEnglish
Pages (from-to)213-222
Number of pages10
JournalJournal of Neuro-Oncology
Volume131
Publication statusPublished - Jan 1 2017

Keywords

  • Astrocytoma/diagnosis/metabolism/pathology, Biomarkers, Tumor/genetics/metabolism, Brain Neoplasms/*diagnosis/genetics/metabolism/pathology, Chromosome Deletion, Chromosomes, Human, Pair 1/genetics, Chromosomes, Human, Pair 19/genetics, Diagnosis, Differential, Gene Deletion, Glioma/*diagnosis/genetics/metabolism/pathology, Humans, Isocitrate Dehydrogenase/metabolism, Macrophages/metabolism, Microglia/metabolism, Oligodendroglioma/diagnosis/metabolism/pathology, X-linked Nuclear Protein/*metabolism, *1p/19q co-deletion, *ALT, *ATRX, *IDH, *Oligoastrocytoma

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    Mellai, M., Annovazzi, L., Senetta, R., Dell'Aglio, C., Mazzucco, M., Cassoni, P., & Schiffer, D. (2017). Diagnostic revision of 206 adult gliomas (including 40 oligoastrocytomas) based on ATRX, IDH1/2 and 1p/19q status. Journal of Neuro-Oncology, 131, 213-222.