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Alternative lengthening of telomeres, ATRX loss and H3â K27M mutations in histologically defined pilocytic astrocytoma with anaplasia
dc.contributor.authorRodriguez, Fausto J.
dc.contributor.authorBrosnan‐cashman, Jacqueline A.
dc.contributor.authorAllen, Sariah J.
dc.contributor.authorVizcaino, M. Adelita
dc.contributor.authorGiannini, Caterina
dc.contributor.authorCamelo‐piragua, Sandra
dc.contributor.authorWebb, Milad
dc.contributor.authorMatsushita, Marcus
dc.contributor.authorWadhwani, Nitin
dc.contributor.authorTabbarah, Abeer
dc.contributor.authorHamideh, Dima
dc.contributor.authorJiang, Liqun
dc.contributor.authorChen, Liam
dc.contributor.authorArvanitis, Leonidas D.
dc.contributor.authorAlnajar, Hussein H.
dc.contributor.authorBarber, John R.
dc.contributor.authorRodríguez‐velasco, Alicia
dc.contributor.authorOrr, Brent
dc.contributor.authorHeaphy, Christopher M.
dc.date.accessioned2019-01-15T20:31:48Z
dc.date.available2020-03-03T21:29:35Zen
dc.date.issued2019-01
dc.identifier.citationRodriguez, Fausto J.; Brosnan‐cashman, Jacqueline A. ; Allen, Sariah J.; Vizcaino, M. Adelita; Giannini, Caterina; Camelo‐piragua, Sandra ; Webb, Milad; Matsushita, Marcus; Wadhwani, Nitin; Tabbarah, Abeer; Hamideh, Dima; Jiang, Liqun; Chen, Liam; Arvanitis, Leonidas D.; Alnajar, Hussein H.; Barber, John R.; Rodríguez‐velasco, Alicia ; Orr, Brent; Heaphy, Christopher M. (2019). "Alternative lengthening of telomeres, ATRX loss and H3â K27M mutations in histologically defined pilocytic astrocytoma with anaplasia." Brain Pathology (1): 126-140.
dc.identifier.issn1015-6305
dc.identifier.issn1750-3639
dc.identifier.urihttps://hdl.handle.net/2027.42/147190
dc.description.abstractAnaplasia may be identified in a subset of tumors with a presumed pilocytic astrocytoma (PA) component or piloid features, which may be associated with aggressive behavior, but the biologic basis of this change remains unclear. Fiftyâ seven resections from 36 patients (23 M, 13 F, mean age 32 years, range 3â 75) were included. A clinical diagnosis of NF1 was present in 8 (22%). Alternative lengthening of telomeres (ALT) was assessed by telomereâ specific FISH and/or CISH. A combination of immunohistochemistry, DNA sequencing and FISH were used to study BRAF, ATRX, CDKN2A/p16, mutant IDH1 p.R132H and H3â K27M proteins. ALT was present in 25 (69%) cases and ATRX loss in 20 (57%), mostly in the expected association of ALT+/ATRXâ (20/24, 83%) or ALTâ /ATRX+ (11/11, 100%). BRAF duplication was present in 8 (of 26) (31%). H3â K27M was present in 5 of 32 (16%) cases, all with concurrent ATRX loss and ALT. ALT was also present in 9 (of 11) cases in the benign PA precursor, 7 of which also had ATRX loss in both the precursor and the anaplastic tumor. In a single pediatric case, ALT and ATRX loss developed in the anaplastic component only, and in another adult case, ALT was present in the PAâ A component only, but ATRX was not tested. Features associated with worse prognosis included subtotal resection, adult vs. pediatric, presence of a PA precursor preceding a diagnosis of anaplasia, necrosis, presence of ALT and ATRX expression loss. ALT and ATRX loss, as well as alterations involving the MAPK pathway, are frequent in PA with anaplasia at the time of development of anaplasia or in their precursors. Additionally, a small subset of PA with anaplasia have H3â K27M mutations. These findings further support the concept that PA with anaplasia is a neoplasm with heterogeneous genetic features and alterations typical of both PA and diffuse gliomas.
dc.publisherWiley Periodicals, Inc.
dc.publisherIARC Press
dc.subject.otheralternative lengthening of telomeres
dc.subject.otherATRX
dc.subject.otherglioma
dc.subject.otherH3â K27M
dc.subject.otherpilocytic astrocytoma
dc.titleAlternative lengthening of telomeres, ATRX loss and H3â K27M mutations in histologically defined pilocytic astrocytoma with anaplasia
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelNeurosciences
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/147190/1/bpa12646_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/147190/2/bpa12646.pdf
dc.identifier.doi10.1111/bpa.12646
dc.identifier.sourceBrain Pathology
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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