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000302035 1001_ $$aTauziède-Espariat, Arnault$$b0
000302035 245__ $$aATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital.
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000302035 520__ $$aATRX immunostaining constitutes a routinely used biomarker for the practice of neuropathology. The loss of ATRX expression correlating with ATRX gene alterations is implicated in a wide variety of pediatric and adult gliomas, and has been indexed as a desirable or essential diagnostic criterion for four tumor types featured in the latest world health organization classification of central nervous system Tumors. In adult-type diffuse glioma, the loss of ATRX expression is a hallmark of astrocytoma, IDH-mutant. Recently, novel tumor types and alterations have been referenced in the literature. These include the high-grade astrocytoma with piloid features (HGAP), for which no consistent clinicopathological features have been defined, and the presence of other alterations in the Krebs cycle genes (variants of the Fumarate hydratase -FH- gene) found in gliomas resembling astrocytomas, IDH-mutant. Because of this rapidly evolving classification and histomolecular landscape, we retrospectively analyzed adult gliomas diagnosed over a four consecutive year period to identify supratentorial gliomas, lacking H3 alterations or IDH mutations and harboring a loss of ATRX expression, in order to update their diagnoses in terms of histopathology, genetics and epigenetics. Four specimens (from 620 adult gliomas, 0.7%) were reclassified at the end of the molecular workup, as: 1/ one HGAP, 2/ one malignant transformation with a primitive neuronal component of an astrocytoma, IDH-mutant which lost the IDH2 mutation at recurrence, 3/ a glioma, FH-mutant for which the histopathological and epigenetic features were similar to an astrocytoma, IDH-mutant, and 4/ a glioblastoma, IDH-wildtype. To conclude, these exceptional cases extend the spectrum of ATRX loss in gliomas, beyond the astrocytoma, IDH-mutant and the diffuse hemispheric glioma, H3 G34-mutant.
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000302035 650_7 $$2Other$$aATRX
000302035 650_7 $$2Other$$aDiffuse glioma
000302035 650_7 $$2Other$$aFH
000302035 650_7 $$2Other$$aHGAP
000302035 650_7 $$0EC 3.6.4.12$$2NLM Chemicals$$aX-linked Nuclear Protein
000302035 650_7 $$0EC 3.6.4.12$$2NLM Chemicals$$aATRX protein, human
000302035 650_7 $$0EC 1.1.1.41$$2NLM Chemicals$$aIsocitrate Dehydrogenase
000302035 650_7 $$2NLM Chemicals$$aHistones
000302035 650_2 $$2MeSH$$aHumans
000302035 650_2 $$2MeSH$$aX-linked Nuclear Protein: genetics
000302035 650_2 $$2MeSH$$aX-linked Nuclear Protein: metabolism
000302035 650_2 $$2MeSH$$aGlioma: genetics
000302035 650_2 $$2MeSH$$aGlioma: diagnosis
000302035 650_2 $$2MeSH$$aGlioma: pathology
000302035 650_2 $$2MeSH$$aGlioma: metabolism
000302035 650_2 $$2MeSH$$aIsocitrate Dehydrogenase: genetics
000302035 650_2 $$2MeSH$$aFemale
000302035 650_2 $$2MeSH$$aMale
000302035 650_2 $$2MeSH$$aAdult
000302035 650_2 $$2MeSH$$aMiddle Aged
000302035 650_2 $$2MeSH$$aBrain Neoplasms: genetics
000302035 650_2 $$2MeSH$$aBrain Neoplasms: diagnosis
000302035 650_2 $$2MeSH$$aBrain Neoplasms: pathology
000302035 650_2 $$2MeSH$$aBrain Neoplasms: metabolism
000302035 650_2 $$2MeSH$$aMutation: genetics
000302035 650_2 $$2MeSH$$aAged
000302035 650_2 $$2MeSH$$aRetrospective Studies
000302035 650_2 $$2MeSH$$aHistones: genetics
000302035 650_2 $$2MeSH$$aYoung Adult
000302035 7001_ $$aRoux, Alexandre$$b1
000302035 7001_ $$aBenzakoun, Joseph$$b2
000302035 7001_ $$aKauv, Paul$$b3
000302035 7001_ $$aTazi, Sanaa$$b4
000302035 7001_ $$aMétais, Alice$$b5
000302035 7001_ $$0P:(DE-He78)c77fccff3e6c42b017b2e8a09813590c$$aSuwala, Abigail K$$b6$$udkfz
000302035 7001_ $$0P:(DE-He78)8126cfb1cc3fa7fa8fd5c20410c6d863$$aHinz, Felix$$b7$$udkfz
000302035 7001_ $$aHasty, Lauren$$b8
000302035 7001_ $$aFilser, Mathilde$$b9
000302035 7001_ $$aMasliah-Planchon, Julien$$b10
000302035 7001_ $$aSaffroy, Raphaël$$b11
000302035 7001_ $$aBucau, Margot$$b12
000302035 7001_ $$aPallud, Johan$$b13
000302035 7001_ $$aVarlet, Pascale$$b14
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