Areas of Expertise:
Clinical application of high throughput molecular technologies for integrated cancer genomic diagnosis, Liquid biopsy for cancer screen, risk stratification and monitoring, Characterization of tumorigenesis roles of novel fusions identified during RNA-seq of tumor tissues, and cancer associated fusions in healthy individuals, Molecular diagnosis of overgrowth syndromes caused by somatic mutations in PI3K/AKT/mTOR signaling pathway
Locations: Main Campus
Education and Training
MD - Tongji Medical College, Huazhong University of Science and Technology (HUST), Wuhan, China
Pediatrics - Children’s Hospital of Wuhan, Wuhan, China
Pediatrics - Union Hospital of Tongji Medical College, HUST, Wuhan, China
Medical Genetics - University of Pennsylvania Medical School/Children’s Hospital of Philadelphia, Philadelphia, PA
Hematology/Oncology - Union Hospital of Tongji Medical College, HUST, Wuhan, China
American Board of Medical GeneticsAmerican Board of Medical Genetics/ Clinical Genetics and CytogeneticsAmerican Board of Medical Genetics/Cytogenetics
Titles and Academic Titles
Vice Chief, Division of Genomic Diagnostics
Director, Cancer Genomics
Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
Departments and Services
Areas of Focus
- Using Next Generation Sequencing Technology in Precision Cancer Care
- Identifying Specific Characteristics of the Acute Lymphocytic Leukemia Genome to Develop Precision Medicine Therapies
Laboratories & Research Programs
Liu H, Sangkum L, Liu GL, Green MS, Li MM, Kaye AD. Effects of Epinephrine on angiogenesis-related gene expressions in Cultured Rat Cardiomyocytes. Journal of Biomedical Research. Epub 2016 April 30;30(5):1-6.
W. Shu, Q. Zhou, H. Zhang, M.M. Li, C. Yu, J. Yu, M. Qi, L. Bao, B. Lin, and P. Li. Medical Genetics training system in North America and Its Impact to Healthcare. Chin J Med Genet, 2016 33(3):396-401
M. M. Li, M. R. Rossi, J. A. Biegel, M. J. Dougherty, G. Doho, J. J. Laffin, B. Levy, P. Miron, F. A. Monzon, G. Toruner, D. Streck, J. M. Hagenkord, I. Znoyko, K. Alvarez, X. Hu, V. Jobanputra, S. Kash, D. J. Wolff. A multi-center, cross-platform clinical validation study of cancer cytogenomic arrays. Cancer Genet. 2015 Nov;208(11):525-36.
Schmit JM, Turner DJ, Hromas RA, Wingard JR, Brown RA, Li Y, Li MM, Slayton WB, Cogle CR. Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome. Leuk Res Rep. 2015 Apr 3;4(1):24-7.
P. Niravath, T. Eble, A. Contreras, L. Franco, M. M. Li, M. F. Rimawi. Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: Clonal evolution unchecked. Experimental Hematology & Oncology 2015 4:1.
Yuwen Li, Jiao Liu, Wencheng Li, Aaron Brown, Melody Baddoo, Marilyn Li, Thomas Carroll, Leif Oxburgh, Yumei Feng, and Zubaida Saifudeen. p53 Enables Metabolic Fitness and Self-Renewal of Nephron Progenitor Cells. Development. 2015 Apr 1;142(7):1228-41. doi: 10.1242/dev.111617.
Joshua R Kapp, Tim Diss, Michael Gandy, James Spicer, Iris Schrijver, Lawrence J Jennings, Marilyn Li, Gregory J Tsongalis, David Gonzalez de Castro, Julia Bridge, Andrew Wallace, Sandra Hing, Joshua Deignan, Rachel Butler, Eldo Verghese, Gary J Latham, Rifat A Hamoudi. Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial. J Clin Pathol. 2015 Feb;68(2):111-8. doi: 10.1136/jclinpath-2014-202644. Epub 2014 Nov 27.
Jardim DL, Tang C, Gagliato Dde M, Falchook GS, Hess K, Janku F, Fu S, Wheler JJ, Zinner RG, Naing A, Tsimberidou AM, Holla V, Li MM, Roy-Chowdhuri S, Luthra R, Salgia R, Kurzrock R, Meric-Bernstam F, Hong DS. Analysis of 1,115 patients tested for MET amplification and therapy response in the MD Anderson Phase I Clinic. Clin Cancer Res. 2014 Dec 15;20(24):6336-45.
L. T. Emrick, L. Murphy, A. A. Shamshirsaz, R. Ruano, C. I. Cassady, L. Liu, F. Chang, V. R. Sutton, M. M. Li, I. B. V. D. Veyver. Prenatal Diagnosis of CLOVES Syndrome confirmed by detection of a mosaic PIK3CA mutation. Am J Med Genet. 2014 Oct;164(10):2633-7
Kudesia R, Li M, Smith J, Patel A, Williams Z. Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue. Reprod Biol Endocrinol. 2014 Mar 3;12:19. doi: 10.1186/1477-7827-12-19.
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Marilyn M Li. Prenatal and postnatal detection of low-level mosaic mutations causing overgrowth syndromes using next generation sequencing. 2014 Association for Molecular Pathology Annual Meeting. Washington D.C. November 14, 2014
Liu Liu, Fengqi Chang, Erica Fang, Guangcheng Zhang, Marylin M Li. Targeted Sequencing of Clinically Significant Gene Mutations in Leukemia Using Next Generation Sequencing. 2014 Association for Molecular Pathology Annual Meeting. Washington D.C. November 11-15, 2014
Wei Xie MD, PhD, Bettye Cox MD, Nimesh R. Patel MD, Marilyn M. Li, MD, Rodolfo Laucirica MD. Cytologic features and genomic profile of renal cell carcinoma with rhabdoid features diagnosed by endobronchial ultrasound-guided fine needle aspiration biopsy. CAP’14. Chicago, IL. September 7-10, 2014
Liu Liu, Erica Fang, Ping Zheng, Ping Wang, Fengqi Chang, Yanchun Li, Desheng Chen, Marilyn M. Li. The Signature of Genomic Aberrations of Breast Cancer Uncovered by Next Generation Sequencing and Chromosomal Microarray Analysis: A study of 131 consecutive clinical cases. 2014 ACMG Annual Genetics Meeting. Nashville, TN, March 2014
Aggarwal A, Rajadhyaksha A, Jayakar P, Thorson W, Marilyn M. Li. Novel mutation in APC gene causing Gardner’s syndrome in a Dominican family. 2014 ACMG Annual Genetics Meeting. Nashville, TN, March 2014
Murphy, Emrick, Shamshirsaz, Ruano, Cassady, Liu Liu, Fengqi Chang, Sutton, Marilyn Li, Van den Veyver. Prenatal Molecular Diagnosis of CLOVES syndrome. Accepted by 2014 ACMG Annual Genetics Meeting. Nashville, TN, March 2014
Haijun(Steve) Zhou, MD, PhD, Marilyn M. Li, MD, Dina R. Mody, MD, Mary R. Schwartz, MD Yimin Ge, MD. Single PIK3CA Hotspot Mutation Detected in Cervical Squamous Cell Carcinoma: Implications for Targeted Therapy. United States & Canadian Academy of Pathology’s 103rd Annual Meeting, San Diego, CA, March 1-7, 2014
F. Chang, G. L. Liu, C. J. Liu and M. M. Li. Amplification-based Next Generation Sequencing. In S. Kulkarni and J. Pfeifer (Eds) Clinical Genomics – A guide to Clinical Next Generation Sequencing. 2014. San Diego, CA. Elsevier
Posters and Presentations
Jinbo Fan, Gozde Akgumus, Donna M Wilmoth, Marilyn Li, Minjie Luo. Molecular Cytogenetic Characteristics of MYC-negative Burkitt Lymphoma: A Case Report and Literature Review. AMP Annual Meeting. Charlotte, NC, November 10-12, 2016
Fengqi Chang, Fumin Lin, Xiaonan Zhao, Michele Thiess, Kajia Cao, Gozde T. Akgumus, Mahdi Sarmady, Marilyn M. Li. Comprehensive Genomic Profiling of Childhood Cancers Using Targeted Next-generation Sequencing. AMP Annual Meeting. Charlotte, NC, November 10-12, 2016
Kajia Cao, Fengqi Chang, Chao Wu, Fumin Lin, Marilyn Li, Mahdi Sarmady. Development and Validation of a Clinical Bioinformatics Pipeline for Comprehensive Pediatrics Cancer Panels. ASHG Annual Meeting 2016. Vancouver, BC, Canada. October 18-22, 2016
Fengqi Chang, Fumin Lin, Mariarita Santi-Vicini, Stephen P. Hunger, Marilyn M. Li. Development and clinical validation of large fusion panel for pediatric and adult cancers. CGC Annual Meeting 2016. Denver, CO. August 8, 2016
Gozde Akgumus, Jaclyn Biegel, Elaine Zackai, Matthew Deardorff, Laura Conlin, Jinbo Fan, Gerald Wertheim, Surabhi Mulchandani, Kristin Zelley, Kim Nichols, Donna Wilmoth, Adam Gleason, Nancy Spinner, Marilyn Li, Minjie Luo. Mosaic Monosomy 7: A New Syndrome with Increased Risk of Hematologic Disease. 2016 ACMG Annual Genetics Meeting. Tampa, FL. March 10, 2016
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Marilyn M Li. A custom-designed next generation sequencing panel detecting extremely low-level mosaic mutations in overgrowth syndromes. The 65rd Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 9, 2015
Chang F, Liu L, Fang E, Zhang G, Li MM. Prenatal and postnatal detection of low-level mosaic mutations causing overgrowth syndromes using next generation sequencing. 2014 Association for Molecular Pathology Annual Meeting; 2014 Nov 14; Washington D.C.
Liu L, Chang F, Fang E, Zhang G, Li MM. Targeted Sequencing of Clinically Significant Gene Mutations in Leukemia Using Next Generation Sequencing. 2014 Association for Molecular Pathology Annual Meeting; 2014 Nov 11-15; Washington D.C.
Xie W, Cox B, Patel NR, Li MM, Laucirica R. Cytologic features and genomic profile of renal cell carcinoma with rhabdoid features diagnosed by endobronchial ultrasound-guided fine needle aspiration biopsy. CAP’14; 2014 Sep 7-10; Chicago, IL.
Liu L, Fang E, Zheng P, Wang P, Chang F, Li , Chen D, Li MM. The Signature of Genomic Aberrations of Breast Cancer Uncovered by Next Generation Sequencing and Chromosomal Microarray Analysis: A study of 131 consecutive clinical cases. 2014 ACMG Annual Genetics Meeting; 2014 Mar; Nashville, TN.
Aggarwal A, Rajadhyaksha A, Jayakar P, Thorson W, Li MM. Novel mutation in APC gene causing Gardner’s syndrome in a Dominican family. 2014 ACMG Annual Genetics Meeting; 2014 Mar; Nashville, TN.
Murphy, Emrick, Shamshirsaz, Ruano, Cassady, Liu L, Chang F, Sutton, Li MM, Van den Veyver. Prenatal Molecular Diagnosis of CLOVES syndrome. Accepted by 2014 ACMG Annual Genetics Meeting; 2014 Mar; Nashville, TN.
Zhou H, Li MM, Mody DR, Schwartz MR, Ge Y. Single PIK3CA Hotspot Mutation Detected in Cervical Squamous Cell Carcinoma: Implications for Targeted Therapy. United States & Canadian Academy of Pathology’s 103rd Annual Meeting; 2014 Mar 1-7; San Diego, CA.
Lectures by Invitation
Li MM. Invited Speaker: The New Schema of Precision Medicine: Evidence-based Clinical Oncology. Global Conference of Chinese Geneticists. Hangzhou, China, September 24, 2016.
Li MM. Keynote Speaker: Precision Medicine in Clinical Oncology: the Present and the Future. International Molecular Pathology Summit: Shenzhen, China, September 16, 2016.
Li MM. Invited Speaker: Interpretation and Reporting of Sequence Variants (ISV) in Somatic Conditions. CGC Annual Meeting 2016. Denver, CO, August 10, 2016
Li MM. Invited Nature.com Webinar Speaker: The Promise of Integrated Cancer Genomic Analysis to Precision Cancer Care. Nature.com. June 9, 2016
Li MM. Invited Speaker: What is Precision Medicine? How to Conquest Cancer Through Precision Cancer Care. International Forums of Germination and Development of Modern Medicine in Central China. Wuhan, China, April, 21, 2016
Li MM. Invited Speaker: Integrated Genomic Analysis of Cancer Genomes for the Management of Pediatric and Adult Cancers. Seattle Children’s Hospital, January 12, 2016
Li MM. Invited Plenary Speaker: Clinical Diagnosis of Mosaic Overgrowth Syndromes Using NGS: the Power and Challenges. AMP annual meeting. Austin TX, November 7, 2015.
Li MM. Interpretation and Reporting of Sequence Variants (ISV) in Somatic Conditions. AMP annual meeting; 2-15 Nov 7; Austin TX.
Li MM. Clinical Application of Modern Molecular Technologies in Cancer: Precision Medicine for Precise Cancer Care. International symposium on Molecular Pathology; 2015 Sep 19; Wuhan, China.
Li MM. Translating Massive Genomic Data into Meaningful Clinical Reporting — The Challenge of Somatic Variant Annotation and Interpretation. Qiagen workshop at 2014 AMP annual meeting; 2014 Nov 12; Washington D.C.
Li MM. Cancer Genomics Technology, Clinical Significance, and Genetic Counseling. National Society of Genetic Counselors 33rd Annual Meeting; 2014 Sep 17; New Orleans, LA.
Li MM. Next Generation Sequencing for Precise Cancer Care — Towards Precision Medicine. International Conference on Advanced Molecular Technologies 2014; 2014 Mar 8; Hong Kong, China.
Li MM. Precision Medicine for Precise Cancer Care. St. Teresa’s Hospital; 2014 Mar 10; Hong Kong, China.
Awards and Honors
2010, Luminex – ACMGF Award for “Promoting Safe and Effective Genetic Testing and Services”
2006, Recognition of Exceptional Contribution to the Organization of International Congress of Global Chinese Geneticists 2006
2006, Outstanding Service Award in ACGA Activities
1989, State Award for Science and Technology Development for the research project: Chromosomal Fragile Sites and Leukemia
1978-1983, Five time recipient of president award for outstanding students (every year in medical school)
Editorial and Academic Positions
Chinese Journal of Birth Health & Heredity, editor
Applied Immunohistochemistry & Molecular Morphology
American Journal of Human Genetics
American Journal of Medical Genetics
Journal of Molecular Diagnosis
Leadership and Memberships
Memberships in Professional Organizations
Association of Chinese Geneticists of North America
Cancer Genomics Consortium (Founding President)
Association of Molecular Pathology
Children's Oncology Group
American College of Medical Genetics (Founding Fellow)
American Society of Human Genetics