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

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
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
US and Canadian Academy of Pathology, 2004 - Present
Society for Pediatric Pathology, 2009 - Present

Web Links


Selected Publications

Assessment of PD-L1 expression and tumor associated immune cells in pediatric cancer tissue.

Majzner R, Simon JS, Gross JF, Martinez D, Pawel B, Santi M, Merchant M, Geoerger B, Hezam I, Marty V, Vielh P, Daugaard M, Sorensen P, Mackall C and Maris J., Cancer Accepted (): , 2017

Loss of Pin1 Suppresses Hedgehog-Driven Medulloblastoma Tumorigenesis.

Xu T1, Zhang H1, Park SS1, Venneti S1, Kuick R2, Ha K1, Michael LE3, Santi M4, Uchida C5, Uchida T6, Srinivasan A7, Olson JM8, Dlugosz AA3, Camelo-Piragua S9, Rual JF10, Neoplasia 19(3): 216-225, 2017, PMID:28167297

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Lowered H3K27me3 and DNA hypomethylation define poorly prognostic pediatric posterior fossa ependymomas.

Bayliss J1, Mukherjee P2, Lu C3, Jain SU4, Chung C1, Martinez D5, Sabari B3, Margol AS6, Panwalkar P1, Parolia A1,7, Pekmezci M8, McEachin RC9, Cieslik M1,7, Tamrazi B10, Garcia BA11, La Rocca G12, Santi M5, Lewis PW4, Hawkins C13,14, Melnick A2, David Allis C3, Thompson CB12, Chinnaiyan AM1,7, Judkins AR15, Venneti S16., Sci Transl Med. 8(366): 366ra161, 2016, PMID:27881822

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Deregulated expression of EZH2 in congenital brainstem disconnection.

Barth PG1,2, Aronica E2, Fox S3, Fluiter K4, Weterman MA4, Poretti A5, Miller DC6, Boltshauser E7, Harding B8, Santi M8, Baas F4., Neuropathol Appl Neurobiol In press(): , 2016, PMID:27886392

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Therapeutic impact of cytoreductive surgery and irradiation of posterior fossa ependymoma in the molecular era: A retrospective multicohort analysis.

Ramaswamy V, Hielscher T, Mack S, Lassaletta A, Lin T, Pajtler K, Jones DTW, Luu B, Cavalli FMG, Aldape K, Remke M, Mynarek M, Rutkowski S, Gururangan S, McLendon R, Lipp ES, Dunham C, Hukin J, Eisenstat D, Fulton D, Van Landeghem F, Santi M, Van Veelen-Vincent M-L, Van Meir E, Osuka S, Fan X, Muraszko K, Tirapelli D, Oba-Shinjo S, Marie S, Carlotti C, Lee JY, Rao AN, Giannini C, Faria C, Nunes S, Mora J, Hamilton R, Hauser P, Jabado N, Petrecca K, Jung S, Massimi L, Zollo M, Cinalli G, Bognar I, Klekner A, Hortobàgyi T, Leary S, Ermoian R, Olson J, Leonard J, Gardner C, Grajkowska W, Chambless L, Cain J, Eberhart C, Adsan S, Massimino M, Giangaspero F, Buttarelli F, Packer RJ, Emery L, Yong W, Soto H, Liau L, Everson R, Grossbach A, Shalaby T, Groszer M, Karajannis M, Zagzag D, Wheeler H, Von Hoff K, Alonso M, Tuñon T, Schűller U, Zitterbart K, Sterba J, Chan J, Guzman M, Elbabaa S, Colman H, Dhall G, Fisher P, Fouladi M, Gajjar A, Goldman S, Hwang E, Kool M, Ladha H, Vera-Bolanos E, Wani K, Lieberman F, Mikkelsen T, Omuro A, Pollack I, Prados M, Robins HI, Soffietti R, Wu J, Metellus P, Tabori U, Bartels U, Bouffet E, Hawkins C, Rutka J, Dirks P, Pfister S, Merchant T, Gilbert M, Armstrong TS, Korshunov A, Ellison D, and Taylor MD, Journal of Clinical Oncology 34(21): , 2016, PMID:27269943

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Whole chromosome 7 gain predicts higher risk of recurrence in pediatric pilocytic astrocytomas independently from KIAA1549-BRAF fusion status.

Roth JJ, Fierst TM, Waander A, Yimei L, Biegel JA, Santi M, Journal of Neuropathology and Experimental Neurology 75(4): 306-315, 2016, PMID:26945035

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MYB-QKI rearrangements in Angiocentric Glioma drive tumorigenicity through a tripartite mechanism.

Bandopadhayay P, Ramkissoon LA, Jain P, Bergthold G, Wala J, Zeid R, Schumacher SE, Urbanski L, O'Rourke R, Gibson, WJ, Pelton K, Ramkissoon SH, Han HJ, Zhu Y, Choudhari N, Silva A, Boucher K, Henn RE, Kang YJ, Knoff D, Paolella BR, Gladden-Young A, Varlet P, Pages M, Horowitz PM, Federation A, Malkin H, Tracy A, Seepo S, Ducar M, Van Hummelen P, Santi M, Buccoliero AM, Scagnet M, Bowers DC, Giannini C, Puget S, Hawkins C, Tabori U, Klekner LB, Bognar L, Burger PC, Eberhart C, Rodriguez FJ, Hill DA, Mueller S, Haas-Kogan DA, Phillips J, Santagata S, Stiles CD, Bradner JE, Jabado N, Goren A, Grill J, Ligon AH, Gourmerova L, Waanders AJ, Storm PB, Kieran MW, Ligon KL, Beroukhim R, Resnick AC, Nature Genetics 48(3): 273-282, 2016, PMID:26829751

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New Brain tumour entities emerge from molecular classification of CNS-PNETs

Sturm D, Orr AB, Umut H, Toprak UH, Volker H, Jones DTW, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, Ryzhova M, Koelsche C, Pfaff E, Allen SJ, Balasubramanian G, Worst B, Pajtler KW, Brabetz S, Johann PD, Sahm F, Reimand J, Mackay A, Carvalho DM, Remke M, Phillips JJ, Perry A, Cowdrey C, Drissi R, Fouladi M, Giangaspero F, Lastowska M, Grajkowska W, Scheurlen W, Pietsch T, Hagel C, Gojo J, Lötsch D, Berger W, Slavc I, Haberler C, Jouvet A, Holm S, Hofer S, Prinz M, Keohane C, Fried I, Mawrin C, Scheie D, Mobley BC, Schniederjan MJ, Santi M, Buccoliero AM, Dahiya S, Kramm CM, von Hoff K, Rutkowski S, Herold-Mende C, Frühwald MC, Milde T, Hasselblatt M, Wesseling P,Röbler J, Schüller U, Ebinger M, Schittenhelm J, Frank S, Grobholz R, Vajtai I, Hans V, Schneppenheim R, Zitterbart K, Collins P, Aronica E, Varlet P, Puget S, Dufour C, Grill J, Figarella-Branger D, Wolter M, Schuhmann MU, Shalaby T, Grotzer M, van Meter T, Monoranu CM, Felsberg J, Reifenberger G, Snuderl M, Forrester LA, Koster J, Versteeg R, Volckmann R, van Sluis P, Wolf S, Mikkelsen T, Gajjar A, Aldape K, Moore AS, Taylor MD, Jones C, Jabado N, Karajannis MA, Eils R, Schlesner M, Licter P, von Deimling A, Pfister SM, Ellison DW, Korshunov A, Kool M, Cell 164(5): 1060-1072, 2016, PMID:26919435

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Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53.

Ng JM, Martinez D, Marsh ED, Zhang Z, Rappaport E, Santi M and Curran T., Cancer Res 75(21): 4629-39, 2015, PMID:26363008

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Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy.

Skjei KL, Church EW, Harding BN, Santi M, Holland-Bouley KD, Clancy RR, Porter BE, Heuer GG, Marsh ED, J Neurosurg Pediatr 4(): 1-7, 2015, PMID:26339958

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