Connect Sign InWhat Helps You Helps Your Patients—Familial Myeloid Neoplasms in the Era of NGS Testing
Over the last decade, large-scale genomic studies have estimated the incidence of presumably pathogenic germline mutations in children and adults with cancer to be 8%. Many of the patients with these germline mutations lack a family history consistent with cancer predisposition syndromes. These findings highlight not only the importance of comprehensive sequencing to screen for germline variants but also that familial cancer syndromes are much more common than previously recognized. In this talk, we address recently described predisposition genes in familial leukemias and myelodysplastic syndromes in both pediatric and adult patients. We use three examples to describe the common clinical and pathologic characteristics of familial myeloid neoplasms, the clinical utility of NGS testing in familial cancers, and current recommendations on diagnostic and management guidelines. This talk is not designed to serve as a comprehensive list of all described predisposition genes in hematologic malignancies.
Dr. Peng Li is a medical director of hematopathology at ARUP Laboratories and an assistant professor at the University of Utah School of Medicine. Dr. Li received her doctorate degree in molecular pharmacology and structural biology from Thomas Jefferson University and her medical degree from Peking University Health Science Center. She then completed an anatomic and clinical pathology residency at the University of Utah School of Medicine. Following residency, Dr. Li completed a hematopathology fellowship at Stanford University and a molecular genetic pathology fellowship at Baylor College of Medicine. Dr. Li is board certified in anatomic and clinical pathology, molecular genetic pathology, and hematopathology. Her research interests include genetic aspects of myeloid and lymphoid malignancies and myeloid neoplasms with germline predisposition.
