What 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.

Originally published on May 3, 2024

Lecture Presenter

Peng Li, MD, PhD

Peng Li, MD, PhD

Assistant Professor
University of Utah School of Medicine
Medical Director, Hematopathology
ARUP Laboratories

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.


After this presentation, participants will be able to:

  • Discuss myeloid neoplasms with germline predisposition in 5th WHO and ICC
  • Describe characteristic clinical and pathologic features of “rare” types of familial myeloid neoplasms in pediatric and adult patients
  • Explain clinical utility of NGS-based testing for myeloid neoplasms (with germline predisposition)
  • Review current recommendations on patient management for cancer surveillance and transplant donor selection

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories