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Page 1
Molecular and clinicopathologic features of gliomas harboring NTRK fusions.
Torre M, Vasudevaraja V, Serrano J, DeLorenzo M, Malinowski S, Blandin AF, Pages M, Ligon AH, Dong F, Meredith DM, Nasrallah MP, Horbinski C, Dahiya S, Ligon KL, Santi M, Ramkissoon SH, Filbin MG, Snuderl M, Alexandrescu S. Torre M, et al. Among authors: santi m. Acta Neuropathol Commun. 2020 Jul 14;8(1):107. doi: 10.1186/s40478-020-00980-z. Acta Neuropathol Commun. 2020. PMID: 32665022 Free PMC article.
SETD2 mutations in primary central nervous system tumors.
Viaene AN, Santi M, Rosenbaum J, Li MM, Surrey LF, Nasrallah MP. Viaene AN, et al. Among authors: santi m. Acta Neuropathol Commun. 2018 Nov 12;6(1):123. doi: 10.1186/s40478-018-0623-0. Acta Neuropathol Commun. 2018. PMID: 30419952 Free PMC article.
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.
Cimino PJ, Ketchum C, Turakulov R, Singh O, Abdullaev Z, Giannini C, Pytel P, Lopez GY, Colman H, Nasrallah MP, Santi M, Fernandes IL, Nirschl J, Dahiya S, Neill S, Solomon D, Perez E, Capper D, Mani H, Caccamo D, Ball M, Badruddoja M, Chkheidze R, Camelo-Piragua S, Fullmer J, Alexandrescu S, Yeaney G, Eberhart C, Martinez-Lage M, Chen J, Zach L, Kleinschmidt-DeMasters BK, Hefti M, Lopes MB, Nuechterlein N, Horbinski C, Rodriguez FJ, Quezado M, Pratt D, Aldape K. Cimino PJ, et al. Among authors: santi m. Acta Neuropathol. 2023 Jan;145(1):71-82. doi: 10.1007/s00401-022-02513-5. Epub 2022 Oct 22. Acta Neuropathol. 2023. PMID: 36271929 Free PMC article.
MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.
Bandopadhayay P, Ramkissoon LA, Jain P, Bergthold G, Wala J, Zeid R, Schumacher SE, Urbanski L, O'Rourke R, Gibson WJ, Pelton K, Ramkissoon SH, Han HJ, Zhu Y, Choudhari N, Silva A, Boucher K, Henn RE, Kang YJ, Knoff D, Paolella BR, Gladden-Young A, Varlet P, Pages M, Horowitz PM, Federation A, Malkin H, Tracy AA, Seepo S, Ducar M, Van Hummelen P, Santi M, Buccoliero AM, Scagnet M, Bowers DC, Giannini C, Puget S, Hawkins C, Tabori U, Klekner A, Bognar L, Burger PC, Eberhart C, Rodriguez FJ, Hill DA, Mueller S, Haas-Kogan DA, Phillips JJ, Santagata S, Stiles CD, Bradner JE, Jabado N, Goren A, Grill J, Ligon AH, Goumnerova L, Waanders AJ, Storm PB, Kieran MW, Ligon KL, Beroukhim R, Resnick AC. Bandopadhayay P, et al. Among authors: santi m. Nat Genet. 2016 Mar;48(3):273-82. doi: 10.1038/ng.3500. Epub 2016 Feb 1. Nat Genet. 2016. PMID: 26829751 Free PMC article.
The spectrum of rare central nervous system (CNS) tumors with EWSR1-non-ETS fusions: experience from three pediatric institutions with review of the literature.
Lopez-Nunez O, Cafferata B, Santi M, Ranganathan S, Pearce TM, Kulich SM, Bailey KM, Broniscer A, Rossi S, Zin A, Nasrallah MP, Li MM, Zhong Y, Miele E, Alaggio R, Surrey LF. Lopez-Nunez O, et al. Among authors: santi m. Brain Pathol. 2021 Jan;31(1):70-83. doi: 10.1111/bpa.12900. Epub 2020 Nov 6. Brain Pathol. 2021. PMID: 32997853 Free PMC article. Review.
Immunohistochemical analysis of H3K27me3 demonstrates global reduction in group-A childhood posterior fossa ependymoma and is a powerful predictor of outcome.
Panwalkar P, Clark J, Ramaswamy V, Hawes D, Yang F, Dunham C, Yip S, Hukin J, Sun Y, Schipper MJ, Chavez L, Margol A, Pekmezci M, Chung C, Banda A, Bayliss JM, Curry SJ, Santi M, Rodriguez FJ, Snuderl M, Karajannis MA, Saratsis AM, Horbinski CM, Carret AS, Wilson B, Johnston D, Lafay-Cousin L, Zelcer S, Eisenstat D, Silva M, Scheinemann K, Jabado N, McNeely PD, Kool M, Pfister SM, Taylor MD, Hawkins C, Korshunov A, Judkins AR, Venneti S. Panwalkar P, et al. Among authors: santi m. Acta Neuropathol. 2017 Nov;134(5):705-714. doi: 10.1007/s00401-017-1752-4. Epub 2017 Jul 21. Acta Neuropathol. 2017. PMID: 28733933 Free PMC article.
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Xu F, Viaene AN, Ruiz J, Schubert J, Wu J, Chen J, Cao K, Fu W, Bagatell R, Fan Z, Long A, Pagliaroli L, Zhong Y, Luo M, Kreiger PA, Surrey LF, Wertheim GB, Cole KA, Li MM, Santi M, Storm PB. Xu F, et al. Among authors: santi m. Acta Neuropathol Commun. 2022 Jul 14;10(1):102. doi: 10.1186/s40478-022-01401-z. Acta Neuropathol Commun. 2022. PMID: 35836290 Free PMC article.
Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.
Coy S, Wang S, Stopka SA, Lin JR, Yapp C, Ritch CC, Salhi L, Baker GJ, Rashid R, Baquer G, Regan M, Khadka P, Cole KA, Hwang J, Wen PY, Bandopadhayay P, Santi M, De Raedt T, Ligon KL, Agar NYR, Sorger PK, Touat M, Santagata S. Coy S, et al. Among authors: santi m. Nat Commun. 2022 Aug 16;13(1):4814. doi: 10.1038/s41467-022-32430-w. Nat Commun. 2022. PMID: 35973991 Free PMC article.
PDGFRA amplification is common in pediatric and adult high-grade astrocytomas and identifies a poor prognostic group in IDH1 mutant glioblastoma.
Phillips JJ, Aranda D, Ellison DW, Judkins AR, Croul SE, Brat DJ, Ligon KL, Horbinski C, Venneti S, Zadeh G, Santi M, Zhou S, Appin CL, Sioletic S, Sullivan LM, Martinez-Lage M, Robinson AE, Yong WH, Cloughesy T, Lai A, Phillips HS, Marshall R, Mueller S, Haas-Kogan DA, Molinaro AM, Perry A. Phillips JJ, et al. Among authors: santi m. Brain Pathol. 2013 Sep;23(5):565-73. doi: 10.1111/bpa.12043. Epub 2013 Mar 18. Brain Pathol. 2013. PMID: 23438035 Free PMC article.
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