
John Pfeifer, MD, PhD
Professor, Pathology & Immunology
Contact
- Email: jdpfeifer@wustl.edu
Division: Anatomic & Molecular Pathology
Titles
Professor, Obstetrics and Gynecology
Editorial Responsibilities
Present: Ad hoc reviewer
American Journal of Clinical Pathology
Present: Ad hoc reviewer
Modern Pathology
Present: Ad hoc reviewer
Human Pathology
Present: Ad hoc reviewer
Expert Opinion on Medical Diagnostics
Present: Ad hoc reviewer
Journal of Molecular Diagnostics
Books
Hassan A, Abro B, Pfeifer JD, Dehner, LP. The Washington Manual of Hematopathology. Wolters Kluwer. Philadelphia. 2025.
Pfeifer JD, Humphrey PA, Ritter JH, Dehner LP. The Washington Manual of Surgical Pathology, 3rd edition. Lippincott Williams & Wilkins. Philadelphia. 2020.
Kulkarni S, Pfeifer JD. Clinical Genomics: A Practical Guide to Clinical Next Generation Sequencing. Elsevier. Amsterdam. 2015.
Research Interests
My academic interests are primarily focused on investigation of the role of molecular genetic testing in the analysis of tissue specimens, specifically on the methods and clinical settings in which molecular testing provides independent information that increases diagnostic accuracy, provides more accurate prognostic estimates, or can be used to guide therapy. The clinical/experimental model for most of these studies has been the group of so-called malignant small round cell tumors, a category of poorly differentiated sarcomas that can be very difficult to distinguish based on conventional histopathologic evaluation. Over the past few years we have shown that molecular testing has independent diagnostic utility, and that testing supports tumor classification schemes that redefine the clinicopathologic spectrum of disease for specific malignancies (with concomitant prognostic and therapeutic implications).
Current studies are focused on the application of so-called next generation DNA sequencing methods (also known as nexgen, deep, or resequencing methods) to analysis of patient specimens. While nexgen methods have traditionally been used for genome-wide analysis, we are exploring technologies that make it possible to use the methods to focus on defined chromosomal regions or individual genetic loci to detect a wide spectrum of genetic aberrations ranging from single base pair changes, to insertions and deletions, to translocations.
Selected Publications
Diverse case series of granulomatous peritonitis mimicking advanced ovarian cancer
Publication
Immune checkpoint markers and tumour mutation burden in Wilms tumour: a study of 59 cases
Publication
Somatic Copy Number Alterations and Mutation Landscape in Before and Post-treatment Malignant Rhabdoid Tumor
Publication
Comparison of gene fusion detection methods in salivary gland tumors
Publication
Assistant
