Mariarita Santi, M.D., Ph.D.
Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine
Contact information
The Children's Hospital of Philadelphia
324 South 34th Street
Room 5NW26
Philadelphia, PA 19104
324 South 34th Street
Room 5NW26
Philadelphia, PA 19104
Office: 215-590-3184
Fax: 215- 590-1736
Fax: 215- 590-1736
Email:
santim@email.chop.edu
santim@email.chop.edu
Publications
Education:
B.S.
Classic Lyceum Reggio Emilia, Italy, 1974.
M.D.
Modena University Medical School, Modena, Italy, 1982.
Ph.D. (Pharmacology)
Modena University , 1988.
Permanent linkB.S.
Classic Lyceum Reggio Emilia, Italy, 1974.
M.D.
Modena University Medical School, Modena, Italy, 1982.
Ph.D. (Pharmacology)
Modena University , 1988.
Description of Clinical Expertise
Pediatric and Adult Brain Tumors, Pediatric and Adult Muscle Disease, Tumor BanksSelected Publications
Viaene AN, Nelson EJ, Santi M.: Perinatal hypoxic-ischemic brain injury: What's behind the "ribbon effect"? J Neuropathol Exp Neurol 82: 865-875, Sep 2023.Cole KA, Ijaz H, Surrey LF, Santi M, Liu X, Minard CG, Maris JM, Voss S, Reid JM, Fox E, Weigel BJ.: Pediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma. Cancer 129: 2245-2255, Jul 2023.
Stundon JL, Ijaz H, Gaonkar KS, Kaufman RS, Jin R, Karras A, Vaksman Z, Kim J, Corbett RJ, Lueder MR, Miller DP, Guo Y, Santi M, Li M, Lopez G, Storm PB, Resnick AC, Waanders AJ, MacFarland SP, Stewart DR, Diskin SJ, Rokita JL, Cole KA.: Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants. Neuro Oncol 25: 1331-1342, Jul 2023.
Gubbiotti MA, Madsen PJ, Tucker AM, Abdullaev Z, Aldape K, Shekdar K, Yang A, Minturn JE, Santi M, Viaene AN.: ZFTA-fused supratentorial ependymoma with a novel fusion partner, DUX4. J Neuropathol Exp Neurol 82: 668-671, Jun 2023.
Shapiro JA, Gaonkar KS, Spielman SJ, Savonen CL, Bethell CJ, Jin R, Rathi KS, Zhu Y, Egolf LE, Farrow BK, Miller DP, Yang Y, Koganti T, Noureen N, Koptyra MP, Duong N, Santi M, Kim J, Robins S, Storm PB, Mack SC, Lilly JV, Xie HM, Jain P, Raman P, Rood BR, Lulla RR, Nazarian J, Kraya AA, Vaksman Z, Heath AP, Kline C, Scolaro L, Viaene AN, Huang X, Way GP, Foltz SM, Zhang B, Poetsch AR, Mueller S, Ennis BM, Prados M, Diskin SJ, Zheng S, Guo Y, Kannan S, Waanders AJ, Margol AS, Kim MC, Hanson D, Van Kuren N, Wong J, Kaufman RS, Coleman N, Blackden C, Cole KA, Mason JL, Madsen PJ, Koschmann CJ, Stewart DR, Wafula E, Brown MA, Resnick AC, Greene CS, Rokita JL, Taroni JN; Children’s Brain Tumor Network; Pacific Pediatric Neuro-Oncology Consortium.: OpenPBTA: The Open Pediatric Brain Tumor Atlas. Cell Genom 3: 100340, May 2023.
Madsen PJ, Hollawell ML, Santi M, Surrey LF, Vossough A, Orr BA, Hill-Kayser C, Tucker AM, Storm PB, Foster JB.: Diffuse leptomeningeal glioneuronal tumor in a child masquerading as an intramedullary spinal pilocytic astrocytoma. Neurooncol Adv 5: vdad049, Apr 2023.
Peter J. Madsen, Madison L. Hollawell, Mariarita Santi, Lea F. Surrey, Arastoo Vossough, Brent A. Orr, Alexander M. Tucker, Philip B. Storm and Jessica B. Foster: Diffuse leptomeningeal glioneuronal tumor in a child masquerading as an intramedullary spinal pilocytic astrocytoma Neuro-Oncology Advances April 2023.
M A. Gubbiotti, M Santi, P B. Storm, MD, M Li, F Xu, Z Abdullaev, K Aldape, and A N. Viaene : First-time identification of a KIF5B-NTRK2 fusion in extraventricular neurocytoma. JNEN 82: 272-275, Feb 2023.
Kristina A. Cole, Heba Ijaz, Lea F. Surrey, Mariarita Santi, Xiaowei Liu , Charles G. Minard , John M. Maris , Stephan Voss MD, Joel M. Reid, Elizabeth Fox and Brenda J. Weigel. : Pediatric Phase 2 trial of a Wee1 inhibitor, adavosertib (AZD1775) and irinotecan for relapsed neuroblastoma, medulloblastoma and rhabdomyosarcoma. Cancer, has been successfully submitted online and is presently being given full consideration for publication. Cancer, 2023 Notes: Accepted in 2022.
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.: Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1. Acta Neuropathol 2023.