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Alternative lengthening of telomeres, ATRX loss and H3â K27M mutations in histologically defined pilocytic astrocytoma with anaplasia

التفاصيل البيبلوغرافية
العنوان: Alternative lengthening of telomeres, ATRX loss and H3â K27M mutations in histologically defined pilocytic astrocytoma with anaplasia
المؤلفون: Rodriguez, 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.
بيانات النشر: Wiley Periodicals, Inc.
IARC Press
سنة النشر: 2019
المجموعة: University of Michigan: Deep Blue
مصطلحات موضوعية: alternative lengthening of telomeres, ATRX, glioma, H3â K27M, pilocytic astrocytoma, Neurosciences, Health Sciences
الوصف: Anaplasia 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. ; Peer Reviewed ; https://deepblue.lib.umich.edu/bitstream/2027.42/147190/1/bpa12646_am.pdfTest ; https://deepblue.lib.umich.edu/bitstream/2027.42/147190/2/bpa12646.pdfTest
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: unknown
تدمد: 1015-6305
1750-3639
العلاقة: Rodriguez, 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.; https://hdl.handle.net/2027.42/147190Test; Brain Pathology; Pages M, Beccaria K, Boddaert N, Saffroy R, Besnard A, Castel D et al ( 2016 ) Coâ occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. Brain Pathol.; Giannini C, Scheithauer BW, Burger PC, Christensen MR, Wollan PC, Sebo TJ et al ( 1999 ) Cellular proliferation in pilocytic and diffuse astrocytomas. 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DOI: 10.1111/bpa.12646
الإتاحة: https://doi.org/10.1111/bpa.12646Test
https://hdl.handle.net/2027.42/147190Test
حقوق: IndexNoFollow
رقم الانضمام: edsbas.1DEDEAE
قاعدة البيانات: BASE
الوصف
تدمد:10156305
17503639
DOI:10.1111/bpa.12646