PEOPLE

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

FLEX exam for the State of Maryland, 1993
Educational Commission for Foreign Medical Graduates (ECFMG)Certified (# 0-480-266-6)., 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

Society for Neuroscience, 1985 - 2005
International Brain Research Organization (IBRO), 1985 - 2005
College of American Pathologist, 1995 - 2008
American Society of Clinical Pathologist, 1995 - 2003
American Association of Neuropathologist, 2003 - Present
Neuropathology Review Committee, Brain Committee of the Southwest Oncology Group(SWOG), 2004 - 2009
The Scientific Award Competition, Ogden Bruton Category, Uniformed Service Pediatric Seminar, 2004 - 2004
US and Canadian Academy of Pathology, 2004 - Present
Children’s Oncology Group (COG), 2004 - Present
Society for Pediatric Pathology, 2009 - Present

Web Links


Selected Publications

NTRK Fusions Identified in 1,217 Pediatric Tumors: the Frequency, Fusion Partners, and Clinical Outcome

Xiaonan Zhao, Chelsea Kotch ,Elizabeth Fox, Lea F Surrey, Gerald B Wertheim, Zubair W Baloch, Fumin Lin, Vinodh Pillai, Minjie Luo, Portia A Kreiger, Jennifer E Pogoriler, Rebecca L Linn, Pierre A Russo, Mariarita Santi, Adam C Resnick, Phillip B Storm, Stephen P Hunger, Andrew J Bauer, Marilyn M Li, JCO-Precision Oncology, 2020

Congenital Central Nervous System Tumors: an institutional review of 64 tumors with emphasis on tumors with unique histologic and molecular characteristics

Viaene N A, Pu C, Perry A, Li M M, Luo M, and Santi M, Brain Pathology, 2020

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency

Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, , Meilleur K, , Finkel RS, , Fan Y, Mamchaoui K, Duguez S,, Nelson I, Laporte J, Santi M, Malfatti E Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG, Annals of Neurology; ANA-20-0171.R2, 2020

Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-grade Gliomas

Scott Ryall, Michal Zapotocky Kohei Fukuoka Liana Nobre Ana Guerreiro-Stucklin Julie Bennett Robert Siddaway Christopher Li Sanja Pajovic Anthony Arnoldo Paul E. Kowalski Monique Johnson Javal Sheth Alvaro Lassaletta Ruth G. Tatevossian Wilda Orisme Ibrahim Qaddoumi Lea F Surrey Marilyn M. Li Angela J. Waanders Stephen Gilheeney Marc Rosenblum Tejus Bale Derek S. Tsang Normand Laperriere Abhaya Kulkarni George M. Ibrahim James Drake Peter Dirks Michael D. Taylor James T. Rutka Suzanne Laughlin Manohar Shroff Mary Shago Lili-Naz Hazrati Colleen D’Arcy Vijay Ramaswamy Ute Bartels Annie Huang Eric Bouffet Matthias A. Karajannis Mariarita Santi David W. Ellison Uri Tabori and Cynthia Hawkins, Cancer Cell, 2020

Use of High-Dose Chemotherapy in Front-Line Therapy of Infants Aged Less Than 12 Months Treated for Aggressive Brain Tumors

Guidi M, Giunti L, Buccoliero AM, Santi M, Spacca B, De Masi S, Genitori L and Sardi I, Frontiers in Pediatrics Pediatric Oncology, 2020

B7eH3 as a Prognostic Biomarker and Therapeutic Target in Pediatric central nervous system Tumors

Uday B. Maachani, Umberto Tosi, David J.Pisapia, Sushmita Mukherjee, Christopher S. Marnell, Julia Voronina, Daniel Martinez, Mariarita Santi, Nadia Dahmane, Zhiping Zhou, Cynthia Hawkins and Mark M. Souweidane, Translational Oncology 13(2): 365-371, 2020

Genomic Characterization of a PPP1CB-ALK Fusion with Fusion Gene Amplification in a Congenital High-Grade Glioma Cancer Genetics

Yiming Zhong Fumin Lin Feng Xu , Jeff Schubert , Jinhua Wu , Luanne Wainwright , Xiaonan Zhao , Kajia Cao , Zhiqian Fan , Jiani Chen , Angela Viaene , Mariarita Santi, Adam Resnick, Phillip Storm, Marilyn M Li, Cancer Genetic, 2020

Molecular and Clinicopathologic Features of Gliomas Harboring NTRK Fusions

Torre M; Vasudevaraja V; Serrano J; DeLorenzo M; Malinowski S; Blandin A-F; Pages M; Ligon A H; Dong F; Meredith D M; Nasrallah M P; Horbinski C; Dahiya S; Ligon K L; Santi M; Ramkissoon S H; Filbin M G; Snuderl M; Alexandrescu S, Acta Neuropathologica Communication, 2020

Genomic analysis of dysembryoplastic neuroepithelial tumor spectrum reveals a diversity of molecular alterations dysregulating the MAPK and P13K/mTOR pathways.

Surrey LF, Jain P, Zhang B, Straka J, Zhao X, Harding BN, Resnick AC, Storm PB, Buccoliero AM, Lorenzo G, Li MM, Waanders AJ, Santi M, J Neuropathol Exp Neurol, 2019

Histone H3K27 Dimethyl Loss is Highly Specific for malignant peripheral nerve sheath tumor and Distinguishes True PRC2 Loss from Isolated H3K27 Trimethyl Loss

Dylan Marchione, Amanda Lisby, Angela Viaene, Mariarita Santi, MacLean Nasrallah, Li-Ping Wang, Erik Williams, Ana Larque-Daza, Ivan Chebib, Benjamin Garcia, and John Wojcik, Modern Pathology, 2019, PMID:31175328

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