NSD1 mediates antagonism between SWI/SNF and polycomb complexes and is required for transcriptional activation upon EZH2 inhibition

Authors: Drosos, Yiannis, Myers, Jacquelyn A., Xu, Beisi, Mathias, Kaeli M., Beane, Emma C., Radko-Juettner, Sandi, Mobley, Robert J., Larsen, Margaret E., Piccioni, Federica, Ma, Xiaotu, Low, Jonathan, Hansen, Baranda S., Peters, Samuel T., Bhanu, Natarajan V., Dhanda, Sandeep K., Chen, Taosheng, Upadhyaya, Santhosh A., Pruett-Miller, Shondra M., Root, David E., Garcia, Benjamin A., Partridge, Janet F., Roberts, Charles W.M.

Source: In Molecular Cell 7 July 2022 82(13):2472-2489

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

Authors: Holdhof, Dörthe, Johann, Pascal D., Spohn, Michael, Bockmayr, Michael, Safaei, Sepehr, Joshi, Piyush, Masliah-Planchon, Julien, Ho, Ben, Andrianteranagna, Mamy, Bourdeaut, Franck, Huang, Annie, Kool, Marcel, Upadhyaya, Santhosh A., Bendel, Anne E., Indenbirken, Daniela, Foulkes, William D., Bush, Jonathan W., Creytens, David, Kordes, Uwe, Frühwald, Michael C., Hasselblatt, Martin, Schüller, Ulrich

Source: Acta neuropathologica. 141(2):291-301

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Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report

Authors: Lin, Beryl, Kesserwan, Chimene, Quinn, Emily A., Einhaus, Stephanie L., Wright, Karen D., Azzato, Elizabeth M., Orr, Brent A., Upadhyaya, Santhosh A.

Source: Journal of pediatric hematology/oncology. 42(3):e177-e180

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Outcomes for children with recurrent/refractory atypical teratoid rhabdoid tumor: A single‐institution study with molecular correlation.

Authors: Carey, Steven S., Huang, Jie, Myers, Jason R., Mostafavi, Roya, Orr, Brent A., Dhanda, Sandeep Kumar, Michalik, Layna H., Tatevossian, Ruth G., Klimo, Paul, Boop, Frederick, Lu, Congyu, Sioson, Edgar, Zhou, Xin, Nichols, Kim E., Merchant, Thomas E., Ellison, David W., Robinson, Giles W., Onar‐Thomas, Arzu, Gajjar, Amar, Upadhyaya, Santhosh A.

Source: Pediatric Blood & Cancer; Oct2024, Vol. 71 Issue 10, p1-10, 10p

Infratentorial C11orf95-fused gliomas share histologic, immunophenotypic, and molecular characteristics of supratentorial RELA-fused ependymoma

Authors: Keenan, Camille, Graham, Richard T., Harreld, Julie H., Lucas, John T., Finkelstein, David, Wheeler, David, Li, Xiaoyu, Dalton, James, Upadhyaya, Santhosh A., Raimondi, Susana C., Boop, Frederick A., DeCuypere, Michael, Zhang, Jinghui, Vinitsky, Anna, Wang, Lu, Chiang, Jason

Source: Acta neuropathologica. 140(6):963-965

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186980514.0x000001&indx=1&recIds=ETOCvdc_100186980514.0x000001

Marked functional recovery and imaging response of refractory optic pathway glioma to BRAFV600E inhibitor therapy: a report of two cases

Authors: Upadhyaya, Santhosh A., Robinson, Giles W., Harreld, Julie H., Klimo, Paul D., Hoehn, Mary Ellen, Orr, Brent A., Qaddoumi, Ibrahim A.

Source: Child's nervous system. 34(4):605-610

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129451962.0x000001&indx=1&recIds=ETOCvdc_100129451962.0x000001

Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management

Authors: Upadhyaya, Santhosh A., Mody, Rajen, Walkovich, Kelly, Hutchinson, Raymond J., Sandlund, John T., Connelly, James A.

Source: Journal of pediatric hematology/oncology. 40(6):483-486

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100064319741.0x000001&indx=1&recIds=ETOCvdc_100064319741.0x000001

Atypical teratoid/rhabdoid tumour‐TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.

Authors: Lee, Julieann C., Tran, Quynh T., McGee, Rose B., Perrino, Melissa R., Upadhyaya, Santhosh A., Hanzlik, Emily M., Pytel, Nicholas, Carroll, Andrew J., Orisme, Wilda, Eldomery, Mohammad, Wang, Lu, Blackburn, Patrick R., Furtado, Larissa V., Viaene, Angela N., Luo, Minjie, Kalish, Jennifer M., Pinto, Soniya N., Bag, Asim K., Orr, Brent A.

Source: Neuropathology & Applied Neurobiology; Apr2024, Vol. 50 Issue 2, p1-4, 4p

Subject Terms: GERM cells, NEUROFIBROMATOSIS 2, HOMOLOGOUS chromosomes, TUMORS

A rare manifestation of choriocarcinoma syndrome in a child with primary intracranial germ cell tumor and extracranial metastases: A case report and review of the literature

Authors: Keenan, Camille, Ramirez, Nicole, Elijovich, Lucas, Klimo, Paul, Bag, Asim K., Acharya, Sahaja, Upadhyaya, Santhosh A.

Source: Pediatric blood & cancer. 68(6)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120206317.0x000001&indx=1&recIds=ETOCvdc_100120206317.0x000001

Comment on: Response to the BRAF/MEK inhibitors dabrafenib/trametinib in an adolescent with a BRAF V600E mutated anaplastic ganglioglioma intolerant to vemurafenib

Authors: Bourque, Melissa S., Salek, Marta, Sabin, Noah D., Canale, Meredith, Upadhyaya, Santhosh A.

Source: Pediatric blood & cancer. 68(4)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115930843.0x000001&indx=1&recIds=ETOCvdc_100115930843.0x000001

Non-Malignant Cerebrospinal Fluid Ascites in a Patient with Atypical Teratoid Rhabdoid Tumor

Authors: Upadhyaya, Santhosh A., Klimo Jr., Paul, Robinson, Giles W.

Source: Oncology research and treatment. 40(4):216-219

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084876796.0x000001&indx=1&recIds=ETOCvdc_100084876796.0x000001

Brainstem Low-Grade Gliomas in Children—Excellent Outcomes With Multimodality Therapy

Authors: Upadhyaya, Santhosh A., Koschmann, Carl, Muraszko, Karin, Venneti, Sriram, Garton, Hugh J., Hamstra, Daniel A., Maher, Cormac O., Betz, Bryan L., Brown, Noah A., Wahl, Daniel

Source: Journal of child neurology. 32(2):194-203

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN609797769&indx=1&recIds=ETOCRN609797769

Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations

Authors: Sengupta, Shayan, Weyand, Angela C., Upadhyaya, Santhosh A., Wu, Yi-Mi, Robinson, Dan R., Mody, Rajen J.

Source: Journal of pediatric hematology/oncology. 41(4):e263-e265

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100080128891.0x000001&indx=1&recIds=ETOCvdc_100080128891.0x000001

Survival After Relapse of Medulloblastoma

Authors: Koschmann, Carl, Bloom, Karina, Upadhyaya, Santhosh, Geyer, J. Russell, Leary, Sarah E.S.

Source: Journal of pediatric hematology/oncology. 38(4):269-273

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100035270216.0x000001&indx=1&recIds=ETOCvdc_100035270216.0x000001

High-grade glioma in infants and young children is histologically, molecularly, and clinically diverse: Results from the SJYC07 trial and institutional experience.

Authors: Chiang, Jason, Bagchi, Aditi, Li, Xiaoyu, Dhanda, Sandeep K, Huang, Jie, Pinto, Soniya N, Sioson, Edgar, Dalton, James, Tatevossian, Ruth G, Jia, Sujuan, Partap, Sonia, Fisher, Paul G, Bowers, Daniel C, Hassall, Timothy E G, Lu, Congyu, Zaldivar-Peraza, Airen, Wright, Karen D, Broniscer, Alberto, Qaddoumi, Ibrahim, Upadhyaya, Santhosh A

Source: Neuro-Oncology; Jan2024, Vol. 26 Issue 1, p178-190, 13p

Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.

Authors: Blackburn, Patrick R., McGee, Rose B., Mostafavi, Roya, Carroll, Andrew J., Mikhail, Fady M., Armstrong, Gregory T., Furtado, Larissa V., Chiang, Jason, Wheeler, David A., Carey, Steven S., Nichols, Kim E., Upadhyaya, Santhosh A.

Source: Genes, Chromosomes & Cancer; Jan2024, Vol. 63 Issue 1, p1-6, 6p

Phase II Trial of Dabrafenib Plus Trametinib in Relapsed/Refractory BRAF V600–Mutant Pediatric High-Grade Glioma.

Authors: Hargrave, Darren R., Terashima, Keita, Hara, Junichi, Kordes, Uwe R., Upadhyaya, Santhosh A., Sahm, Felix, Bouffet, Eric, Packer, Roger J., Witt, Olaf, Sandalic, Larissa, Kieloch, Agnieszka, Russo, Mark, Cohen, Kenneth J., Diez, Blanca, Cappellano, Andrea, Epelman, Sidnei, Mancano, Bruna, Nysom, Karsten, Aerts, Isabelle, Bertozzi, Anne-Isabelle

Source: Journal of Clinical Oncology; 11/20/2023, Vol. 41 Issue 2, p5174-5183, 16p

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Treatment‐related calvarial lesions in pediatric brain tumor survivors

Authors: Wallace, David, Taylor, Douglas R., Pan, Haitao, Hwang, Scott, Lucas, John T., Klimo, Paul, Upadhyaya, Santhosh A., Boop, Frederick A.

Source: Pediatric blood & cancer. 67(6)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107611787.0x000001&indx=1&recIds=ETOCvdc_100107611787.0x000001

Chromosome arm 1q gain is an adverse prognostic factor in localized and diffuse leptomeningeal glioneuronal tumors with BRAF gene fusion and 1p deletion

Authors: Chiang, Jason, Dalton, James, Upadhyaya, Santhosh A., Patay, Zoltán, Qaddoumi, Ibrahim, Li, Xiaoyu, Segura, Annette D., Sharma, Suash, Ismail, Azzam, Shurtleff, Sheila A., Raimondi, Susana C.

Source: Acta neuropathologica. 137(1):179-181

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141525971.0x000001&indx=1&recIds=ETOCvdc_100141525971.0x000001