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

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
US and Canadian Academy of Pathology, 2004 - Present
Children’s Oncology Group (COG), 2004 - 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
Society for Pediatric Pathology, 2009 - Present

Web Links


Selected Publications

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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Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers.

Change F, Lin F, Cao K, Surrey LF, Aplenc R, Bagatell R, Resnick AC, Santi M, Storm PB, Tasian SK ,Waanders AJ, Hunger SP, Li MM., J Mol Diagn., 2019, PMID:31255796

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Clinical Utility of Custom-Designed NGS Panel Testing in Pediatric Tumors

Lea Filippone Surrey, MD; Suzanne P. MacFarland, MD; Fengqi Chang, PhD; Kajia Cao, PhD; Komal S. Rathi, MS; Gozde T. Akgumus, MS; Daniel Gallo, MS; Fumin Lin, PhD; Adam Gleason, MS; Pichai Raman, PhD; Richard Aplenc, MD, PhD; Rochelle Bagatell, MD; Jane Minturn, MD, PhD; Yael Mosse, MD; Mariarita Santi, MD, PhD; Sarah K. Tasian, MD; Angela J. Waanders, MD; Mahdi Sarmady, PhD; John M. Maris, MD; Stephen P. Hunger, MD; Marilyn M. Li, MD, Genome Medicine 11(1:32): , 2019, PMID:31133068

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Differential expression of Wilms' Tumor protein in diffuse intrinsic pontine glioma.

Lee S, Kambhampati M, Yadavilli S, Gordish-Dressman H, Santi M, Cruz CR, Packer RJ, Almira-Suarez MI, Hwang EI, Nazarian J, J Neuropathol Exp Neurol, 2019, PMID:30990879

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Clinicopathologic features of Anaplastic Myxopapillary Ependymomas

Julieann C. Lee, Nima Sharifai Sonika Dahiya, B.K.Kleinschmidt-DeMasters, Marc K. Rosenblum,Gerald F. Reis, David Samuel, Aleli M. Siongco, Mariarita Santi Phillip B. Storm, Sean P. Ferris, Andrew W. Bollen, Melike Pekmezci, David A. Solomon, Tarik Tihan1, and Arie Perry, Brain Pathology 29(): 75-84, 2019, PMID:30417460

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Inhibition of MYC attenuates tumor cell self-renewal and promotes senescence in SMARCB1 deficient Group 2 Atypical Teratoid Rhabdoid Tumors to suppress tumor growth in vivo.

Irina Alimova, Angela Pierce, Etienne Danis, Andrew Donson, Diane K Birks, Andrea Griesinger1 Nicholas K Foreman, Mariarita Santi, Laura Soucek, Sujatha Venkataraman & Rajeev Vibhakar., International Journal of Cancer, 2019, PMID:30230537

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BRAF V600E Mutation in Juvenile Xanthogranuloma Family Neoplasms of the Central Nervous System (CNS-JXG): A revised diagnostic algorithm to include pediatric Erdheim-Chester Disease.

Jennifer Picarsic; Theodore Pysher; Holly Zhou; Mark Fluchel; Tristan Pettit; Martin Whitehead; Lea F Surrey; Brian Harding; Gal Goldstein; Yakov Fellig; Michael Weintraub; Bret C Mobley; Peta M Sharples; Maria Luisa Sulis; Eli L Diamond; Ronald Jaffe; Karuna V Shekdar; Mariarita Santi, Acta Neuropathologica Communications, 2019

SETD2 mutations in Primary Central Nervous System Tumors

Angela N Viaene, Mariarita Santi, Jason Rosenbaum, Marilyn M Li, Lea F Surrey, and MacLean P Nasrallah,, Acta Neuropathologica Communications 12(6 (1) :123): , 2018, PMID:30419952

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Heterogeneity within the PF-EPN-B ependymoma subgroup.

Cavalli FMG, Hübner JM, Sharma T, Luu B, Sill M, Zapotocky M, Mack SC, Witt H, Lin T, Shih DJH, Ho B, Santi M, Emery L, Hukin J, Dunham C, McLendon RE, Lipp ES, Gururangan S, Grossbach A, French P, Kros JM, van Veelen MC, Rao AAN, Giannini C, Leary S, Jung S, Faria CC, Mora J, Schüller U, Alonso MM, Chan JA, Klekner A, Chambless LB, Hwang EI, Massimino M, Eberhart CG, Karajannis MA, Lu B, Liau LM, Zollo M, Ferrucci V, Carlotti C, Tirapelli DPC, Tabori U, Bouffet E, Ryzhova M, Ellison DW, Merchant TE, Gilbert MR, Armstrong TS, Korshunov A, Pfister SM, Taylor MD, Aldape K, Pajtler KW, Kool M, Ramaswamy V., Acta Neuropathologica 136(2): 227-237, 2018, PMID:30019219

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Novel FGFR2-INA fusion identified in two low-grade mixed neuronal-glial tumors drives oncogenesis via MAPK and PI3K/mTOR pathway activation

Payal Jain, Lea F. Surrey, Joshua Straka, Minjie Luo, Fumin Lin, Brian Harding, Adam C Resnick, Phillip B Storm, Anna Maria Buccoliero, Mariarita Santi, Marilyn M. Li, Angela J Waanders, Acta Neuropathologica, 2018

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