
Mariarita Santi, MD, PhD
Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
University of Pennsylvania Perelman School of Medicine
Contact InformationChildren's Hospital of Philadelphia
324 South 34th Street
Room 5NW26
Philadelphia, PA 19104
Office: 215-590-3184
Fax: 215- 590-1736
Email: santim@email.chop.edu
Specialty Division
Neuropathology
Clinical Expertise
Pediatric and Adult Brain Tumors, Pediatric and Adult Muscle Disease, Tumor Banks
Education
B.S. Classic Lyceum Reggio Emilia, Italy, 1974
M.D. Modena University Medical School, Modena, Italy, 1982
Ph.D. (Pharmacology), Modena University , 1988
Specialty Certification
Educational Commission for Foreign Medical Graduates (ECFMG)Certified (# 0-480-266-6)., 1993
FLEX exam for the State of Maryland, 1993
Diplomate of the American Board of Pathology in Anatomic Pathology, 1998
Diplomate of the American Board of Pathology in Neuropathology., 2001
New York State Department of Health Certificate of Qualification in general histopathology, 2005
American Board of Pathology.
Successufly fulfilled the requirements for voluntary recertification., 2014
Postgraduate Training
Resident in Endocrinology, Modena University Medical Center, Modena, Italy., 1982-1985
Postdoctoral Fellow, Laboratory of Preclinical Pharmacology, National Institute of Mental Health, Saint Elizabeth's Hospital, Washington, D.C., 1984-1985
Research Associate, Fidia-Georgetown Institute for the Neuroscience, Georgetown University Medical School, Washington D.C., 1985-1990
Research Associate , FIDIA Research Laboratory, Abano Terme, Padova, Italy, 1990-1991
Resident in Anatomical Pathology, Department of Pathology and Laboratory Medicine
George Washington University Medical Center,Washington D.C., 1994-1997
Fellowship, Surgical Pathology, Department of Pathology, Georgetown University Medical Center, Washington D.C., 1997-1998
Fellowship, Neuropathology, Department of Neuropathology Armed Forces Institute of Pathology (AFIP), Washington D.C., 1998-2000
Training, Developmental and Pediatric Neuropathology, Department of Pathology and Laboratory Medicine,
Children Hospital of Philadelphia, Philadelphia, 1999-1999
Awards and Honors
Honors, MD Summa cum Laude, Modena University Medical School, Modena, Italy., 1982
Residency, Summa cum Laude in Endocrinology, Modena University Med. School, Modena,Italy., 1985
Memberships and Professional Organizations
International Brain Research Organization (IBRO), 1985 - 2005
Society for Neuroscience, 1985 - 2005
College of American Pathologist, 1995 - 2008
American Society of Clinical Pathologist, 1995 - 2003
American Association of Neuropathologist, 2003 - Present
Children’s Oncology Group (COG), 2004 - Present
The Scientific Award Competition, Ogden Bruton Category, Uniformed Service Pediatric Seminar, 2004 - 2004
Neuropathology Review Committee, Brain Committee of the Southwest Oncology Group(SWOG), 2004 - 2009
US and Canadian Academy of Pathology, 2004 - Present
Society for Pediatric Pathology, 2009 - Present
Web Links
Selected Publications
NTRK1-rearranged histiocytosis: clinicopathologic and molecular features
Rivers Fragneau, Sylvie Fraitag, Paul G. Kemps, Zofia Hélias-Rodzewicz, Somak Roy, Benjamin Bonsang, Allison L. Bartlett, Subhra Dhar, Martin Jankofsky, Jozef Zlocha, Karel Svojgr, Lenka Krsková, Andrica C.H. de Vries, Robert M. Verdijk, Jan A.M. van Laar, Roos J. Leguit Philippe Drabent, Eric D. Carlsen, Jonhan Ho, Arivarasan D. Karunamurthy, Mariarita Santi, Florian Babor, Robert Lorsbach, Astrid G.S. van Halteren, Sebastien Héritier, Eli L. Diamond, Benjamin H. Durham, Ashish R. Kumar, A. Bhattacharya, Julien Haroche, Jean Donadieu, Arndt Borkhardt, Jennifer L. Picarsic, Jean-François Emile,, BLOOD SUBMITTED, 2025
The Open Pediatric Cancer Project
Zhuangzhuang Geng; Eric Wafula; Ryan J. Corbett; Yuanchao Zhang; Run Jin; Krutika S. Gaonkar; Sangeeta Shukla; Komal S. Rathi; Dave Hill; Aditya Lahiri; Daniel P. Miller; Alex Sickler; Kelsey Keith; Christopher Blackden; Antonia Chroni; Miguel A. Brown; Adam A. Kraya; Brian R. Rood; Adam C. Resnick; Nicholas Van Kuren; John M. Maris; Alvin Farrel; Mateusz P. Koptyra; Gerri R. Trooskin; Noel Coleman; Yuankun Zhu; Stephanie Stefankiewicz; Zied Abdullaev; Asif Chinwalla; Mariarita Santi; Ammar S. Naqvi; Jennifer L. Mason; Carl J. Koschmann; Xiaoyan Huang; Sharon J. Diskin; Kenneth Aldape; Bailey K. Farrow; Weiping Ma; Bo Zhang; Brian M. Ennis; Sarah Tasian; Saksham Phul; Matthew R. Leuder; Chuwei Zhong; Joseph M. Dybas; Pei Wang; Deanne Taylor; Jo Lynne Rokita, GigaScience GIGA-D-25-86 SUBMITTED, 2025
Integrated clinical and molecular landscape of disseminated pediatric low-grade glioma
Adrian B. Levine, Julie Bennett, Prabhumallikarjun Pati, Ian Burns, Robert Siddaway, Cyril Li, Joseline Haizel-Cobbina, Mansuba Rana, Richard Yuditskiy, Andrew Son1, Yoshiko Nakano, Palak Patel, I-Chen Ho, Craig Erker, Chantel Cacciotti, Mariarita Santi, Ernest J Nelson, Sylvia Cheng, Christopher Dunham, Bev Wilson, Karina Black, Frank van Landeghem, Ana S Guerreiro Stuecklin, Annette Weiser, Valerie Larouche, Panagiota Giannakouros, Adriana Fonseca, Lane Williamson, Hazel Ware, Igor L Fernandes, Ashley S Plant-Fox, et all. Corresponding authors: Michael Dewan, Uri Tabori and Cynthia Hawkins, Cancer cell SUBMITTED, 2025
A longitudinal single-cell and spatial multiomic atlas of pediatric high-grade glioma"
Jonathan H. Sussman, Derek A. Oldridge, Wenbao Yu, Chia-Hui Chen, Jiazhen Rong, Abigail Zellmer, Arianne Parvaresh-Rizi, Anusha Thadi, Jason Xu, Shovik Bandyopadhyay, Yusha Sun, David Wu, C. Emerson Hunter, Stephanie Brosius, Kyung Jin Ahn, Amy Baxter, Rami S. Vanguri, Stephanie McGrory, Nduka M. Amankulor, Mariarita Santi, Angela Viaene, Nancy Zhang, Thomas De Raedt, Kristina Cole, Kai Tan, Nature Genetics, 2024
A longitudinal single-cell and spatial multiomic atlas of pediatric high-grade glioma
Jonathan H. Sussman, Derek A. Oldridge4,# Wenbao Yu2,#, Chia-Hui Chen2, Jiazhen Rong3,5, Abigail Zellmer4, Arianne Parvaresh-Rizi3, Anusha Thadi2, Jason Xu1,2,3, Shovik Bandyopadhyay1,2,6, Yusha Sun1,6, David Wu1,2,3, C. Emerson Hunter1,2, Stephanie Brosius2, Kyung Jin Ahn3, Amy Baxter4, Rami S. Vanguri4, Stephanie McGrory3, Nduka M. Amankulor8, Mariarita Santi, Angela Viaene, Nancy Zhang, Thomas De Raedt, Kristina Cole, Kai Tan, bioRXiv, 2024
Perinatal hypoxic-ischemic brain injury: What's behind the "ribbon effect"?
Viaene AN, Nelson EJ, Santi M., J Neuropathol Exp Neurol 82(): 865-875, 2023, PMID:37595577
Pediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma
Cole KA, Ijaz H, Surrey LF, Santi M, Liu X, Minard CG, Maris JM, Voss S, Reid JM, Fox E, Weigel BJ., Cancer 129(): 2245-2255, 2023, PMID:37081608
Pediatric Phase 2 trial of a Wee1 inhibitor, adavosertib (AZD1775) and irinotecan for relapsed neuroblastoma, medulloblastoma and rhabdomyosarcoma.
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., Cancer, 2023, PMID:37081608
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
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., Neuro Oncol 25(): 1331-1342, 2023, PMID:36541551
ZFTA-fused supratentorial ependymoma with a novel fusion partner, DUX4
Gubbiotti MA, Madsen PJ, Tucker AM, Abdullaev Z, Aldape K, Shekdar K, Yang A, Minturn JE, Santi M, Viaene AN., J Neuropathol Exp Neurol 82(): 668-671, 2023, PMID:37218333