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Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
Lee JC, Tran QT, McGee RB, Perrino MR, Upadhyaya SA, Hanzlik EM, Pytel N, Carroll AJ, Orisme W, Eldomery M, Wang L, Blackburn PR, Furtado LV, Viaene AN, Luo M, Kalish JM, Pinto SN, Bag AK, Orr BA. Lee JC, et al. Neuropathol Appl Neurobiol. 2024 Apr;50(2):e12971. doi: 10.1111/nan.12971. Neuropathol Appl Neurobiol. 2024. PMID: 38488196 No abstract available.
Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition.
Mondal G, Lee JC, Ravindranathan A, Villanueva-Meyer JE, Tran QT, Allen SJ, Barreto J, Gupta R, Doo P, Van Ziffle J, Onodera C, Devine P, Grenert JP, Samuel D, Li R, Metrock LK, Jin LW, Antony R, Alashari M, Cheshier S, Whipple NS, Bruggers C, Raffel C, Gupta N, Kline CN, Reddy A, Banerjee A, Hall MD, Mehta MP, Khatib Z, Maher OM, Brathwaite C, Pekmezci M, Phillips JJ, Bollen AW, Tihan T, Lucas JT Jr, Broniscer A, Berger MS, Perry A, Orr BA, Solomon DA. Mondal G, et al. Among authors: lee jc. Acta Neuropathol. 2020 Jun;139(6):1071-1088. doi: 10.1007/s00401-020-02155-5. Epub 2020 Apr 17. Acta Neuropathol. 2020. PMID: 32303840 Free PMC article.
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: lee jc. medRxiv [Preprint]. 2023 Jan 31:2023.01.30.23285099. doi: 10.1101/2023.01.30.23285099. medRxiv. 2023. PMID: 36778397 Free PMC article. Updated. Preprint.
Intracranial mesenchymal tumors with FET-CREB fusion are composed of at least two epigenetic subgroups distinct from meningioma and extracranial sarcomas.
Sloan EA, Gupta R, Koelsche C, Chiang J, Villanueva-Meyer JE, Alexandrescu S, Eschbacher JM, Wang W, Mafra M, Ud Din N, Carr-Boyd E, Watson M, Punsoni M, Oviedo A, Gilani A, Kleinschmidt-DeMasters BK, Coss DJ, Lopes MB, Reddy A, Mueller S, Cho SJ, Horvai AE, Lee JC, Pekmezci M, Tihan T, Bollen AW, Rodriguez FJ, Ellison DW, Perry A, von Deimling A, Chang SM, Berger MS, Solomon DA. Sloan EA, et al. Among authors: lee jc. Brain Pathol. 2022 Jul;32(4):e13037. doi: 10.1111/bpa.13037. Epub 2021 Nov 25. Brain Pathol. 2022. PMID: 34821426 Free PMC article.
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: lee jc. HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. Epub 2023 Sep 3. HGG Adv. 2023. PMID: 37660254 Free PMC article.
Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
Sloan EA, Hilz S, Gupta R, Cadwell C, Ramani B, Hofmann J, Kline CN, Banerjee A, Reddy A, Oberheim Bush NA, Chang S, Braunstein S, Chang EF, Raffel C, Gupta N, Sun PP, Kim JYH, Moes G, Alva E, Li R, Bruggers CS, Alashari M, Wetmore C, Garg S, Dishop M, Van Ziffle J, Onodera C, Devine P, Grenert JP, Lee JC, Phillips JJ, Pekmezci M, Tihan T, Bollen AW, Berger MS, Costello JF, Perry A, Solomon DA. Sloan EA, et al. Among authors: lee jc. Acta Neuropathol. 2020 May;139(5):953-957. doi: 10.1007/s00401-020-02144-8. Epub 2020 Mar 10. Acta Neuropathol. 2020. PMID: 32157385 Free PMC article. No abstract available.
Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas.
Sloan EA, Cooney T, Oberheim Bush NA, Buerki R, Taylor J, Clarke JL, Torkildson J, Kline C, Reddy A, Mueller S, Banerjee A, Butowski N, Chang S, Mummaneni PV, Chou D, Tan L, Theodosopoulos P, McDermott M, Berger M, Raffel C, Gupta N, Sun PP, Li Y, Shah V, Cha S, Braunstein S, Raleigh DR, Samuel D, Scharnhorst D, Fata C, Guo H, Moes G, Kim JYH, Koschmann C, Van Ziffle J, Onodera C, Devine P, Grenert JP, Lee JC, Pekmezci M, Phillips JJ, Tihan T, Bollen AW, Perry A, Solomon DA. Sloan EA, et al. Among authors: lee jc. Acta Neuropathol. 2019 Nov;138(5):877-881. doi: 10.1007/s00401-019-02072-2. Epub 2019 Sep 12. Acta Neuropathol. 2019. PMID: 31515627 Free PMC article. No abstract available.
Intracranial mesenchymal tumor with FET-CREB fusion-A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms.
Sloan EA, Chiang J, Villanueva-Meyer JE, Alexandrescu S, Eschbacher JM, Wang W, Mafra M, Ud Din N, Carr-Boyd E, Watson M, Punsoni M, Oviedo A, Gilani A, Kleinschmidt-DeMasters BK, Coss DJ, Lopes MB, Raffel C, Berger MS, Chang SM, Reddy A, Ramani B, Ferris SP, Lee JC, Hofmann JW, Cho SJ, Horvai AE, Pekmezci M, Tihan T, Bollen AW, Rodriguez FJ, Ellison DW, Perry A, Solomon DA. Sloan EA, et al. Among authors: lee jc. Brain Pathol. 2021 Jul;31(4):e12918. doi: 10.1111/bpa.12918. Epub 2021 Jan 28. Brain Pathol. 2021. PMID: 33141488 Free PMC article.
4,856 results