Marilyn M. Li, M.D.



New Insights Underscore the Need to Identify NTRK Fusions in Childhood Tumors

DATE: September 24, 2020

TIME: 11 am ET | 5 pm CET



Webinar | New Insights Underscore the Need to Identify NTRK Fusions in Childhood Tumors



NTRK fusions are oncogenic drivers in a variety of tumors. The Food and Drug Administration has recently approved the NTRK inhibitors larotrectinib and entrectinib for the treatment of pediatric and adult patients with NTRK fusion positive advanced solid tumors regardless of tumor histology.

In children, the incidence of NTRK fusions is high (more than 90 percent) in certain tumors, such as infantile fibrosarcoma, congenital mesoblastic nephroma, and secretory carcinoma; lower (between 5 percent and 26 percent) in other tumors such as pediatric papillary thyroid carcinomas and a subset of pediatric gliomas; and rarely seen in different acute leukemia.

In this webinar, Marilyn M. Li of the Children’s Hospital of Philadelphia will discuss a study of a large cohort of pediatric tumors using custom-designed DNA- and RNA-based next-generation sequencing panels. The team found that NTRK fusions are more common in pediatric tumors compared to adult tumors and involve a broader panel of fusion partners and a wider range of tumors than previously recognized.

The identification of these NTRK fusions is essential for precise tumor diagnosis and accurate tumor treatment. Therefore, it is crucial to include NTRK fusions as part of tumor genomic profiling for pediatric cancer patients to facilitate pediatric precision cancer care.

For Research Use Only. Not for use in diagnostics procedures.


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Marilyn M. Li, M.D.

Professor of Pathology and Laboratory Medicine
Professor of Pediatrics
Vice Chief of the Division of Genomic Diagnostics
Director of Cancer Genomic Diagnostics
Children’s Hospital of Philadelphia
University of Pennsylvania, Perelman School of Medicine

Dr. Marilyn M. Li holds American Board of Medical Genetics and Genomics certification in Clinical Cytogenetics and Clinical Molecular Genetics. She is a fellow of ACMG, AMP, ASHG, and ASCO. She is a member of the ACMG Professional Practice & Guideline Committee and the chair of the AMP Somatic Variant Interpretation Workgroup.

Dr. Li's primary research interest is clinical application of microarray and next generation sequencing technologies in conjunction with modern bioinformatics tools in cancer research and precision cancer care. Her group has studied thousands of cancer genomes using custom-designed cancer-specific arrays, NGS panels, and cancer exomes. Their experience demonstrated that these state-of-the-art technologies uncover genomic alterations that can be used for cancer diagnosis, risk stratification, and therapeutic selection. She initiated, organized and is the first president of the Cancer Genomics Consortium, an international consortium whose mission is to facilitate the development and utilization of microarray-based technology and NGS technology for high-quality, reliable cancer genetic testing in diagnostic laboratories.

Other research projects in her lab include studies of common leukemia- and lymphoma- associated genetic aberrations in healthy individuals and mosaic overgrowth syndromes and chromosome microdeletion syndromes. She is an active member of the medical school and is involved in teaching medical students and Ph.D. students, and training residents and fellows.