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000298558 245__ $$aIDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread.
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000298558 520__ $$aIDH-mutant astrocytomas are diffuse gliomas that are defined by characteristic mutations in IDH1 or IDH2 and do not have complete 1p/19q co-deletion. The established grading criteria include histological features of brisk mitotic activity (grade 3) and necrosis and/or microvascular proliferation (grade 4). In addition, homozygous deletion of the CDKN2A/B locus has recently been implemented as a molecular marker for grade 4 IDH-mutant astrocytomas. Here, we describe a subgroup of high-grade IDH-mutant astrocytomas characterised by a primitive neuronal component based on histology and a distinct DNA methylation profile (n = 51, ASTRO PNC). Misinterpretation as carcinoma metastasis was common, since GFAP expression was absent in the primitive neuronal component, whereas TTF-1 expression was detected in 15/19 cases (79%) based on immunohistochemistry. Apart from mutations in IDH1, TP53, and ATRX, we observed enrichment for alterations in RB1 (n = 19/51, 37%) and MYCN (n = 14/51, 27%). Homozygous CDKN2A/B deletion (n = 1/51, 2%) and CDK4 amplification (n = 3/51, 6%) were relatively rare events. Clinical (n = 31 patients) and survival data (n = 23 patients) indicate a clinical behaviour similar to other CNS WHO grade 4 IDH-mutant astrocytomas, however with an increased risk for leptomeningeal (n = 7) and extra-axial (n = 2) spread. Taken together, ASTRO PNC is defined by a distinct molecular and histological appearance that can mimic metastatic disease and typically follows an aggressive clinical course.
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000298558 650_7 $$2Other$$aMYCN
000298558 650_7 $$2Other$$aRB1
000298558 650_7 $$2Other$$aAstrocytoma
000298558 650_7 $$2Other$$aDNA methylation
000298558 650_7 $$2Other$$aIDH-mutant
000298558 650_7 $$2Other$$aPrimitive neuronal component
000298558 650_7 $$0EC 1.1.1.41$$2NLM Chemicals$$aIsocitrate Dehydrogenase
000298558 650_7 $$0EC 1.1.1.42.$$2NLM Chemicals$$aIDH1 protein, human
000298558 650_7 $$0EC 1.1.1.41$$2NLM Chemicals$$aIDH2 protein, human
000298558 650_2 $$2MeSH$$aHumans
000298558 650_2 $$2MeSH$$aAstrocytoma: genetics
000298558 650_2 $$2MeSH$$aAstrocytoma: pathology
000298558 650_2 $$2MeSH$$aIsocitrate Dehydrogenase: genetics
000298558 650_2 $$2MeSH$$aBrain Neoplasms: genetics
000298558 650_2 $$2MeSH$$aBrain Neoplasms: pathology
000298558 650_2 $$2MeSH$$aMale
000298558 650_2 $$2MeSH$$aMutation
000298558 650_2 $$2MeSH$$aFemale
000298558 650_2 $$2MeSH$$aMiddle Aged
000298558 650_2 $$2MeSH$$aDNA Methylation
000298558 650_2 $$2MeSH$$aAdult
000298558 650_2 $$2MeSH$$aAged
000298558 650_2 $$2MeSH$$aMeningeal Neoplasms: genetics
000298558 650_2 $$2MeSH$$aMeningeal Neoplasms: pathology
000298558 650_2 $$2MeSH$$aYoung Adult
000298558 7001_ $$0P:(DE-He78)263d95a5b6ba4abce7abee7185b9630e$$aFriedel, Dennis$$b1$$udkfz
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000298558 7001_ $$aBrandner, Sebastian$$b6
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000298558 7001_ $$aCherkezov, Asan$$b15
000298558 7001_ $$aDeng, Maximilian Y$$b16
000298558 7001_ $$avan Dis, Vera$$b17
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000298558 7001_ $$aFrank, Stephan$$b19
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000298558 7001_ $$aRiemenschneider, Markus J$$b36
000298558 7001_ $$aSankowski, Roman$$b37
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000298558 7001_ $$aVerdijk, Robert M$$b41
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