Division
- Anatomic & Molecular Pathology
Additional Titles
- Professor, Obstetrics and Gynecology
Clinical Interests
- Gynecological Pathology
- Molecular Genetic Pathology
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.
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. |
Selected Publications
| Sun L, Petrone JS, McNulty SN, Evenson MJ, Zhu X, Robinson J, Chernock RD, Duncavage EJ, Pfeifer JD. Comparison of Gene Fusion Detection Methods in Salivary Gland Tumors. Hum Pathol. 2022;123:1-10. |
| Pfeifer JD, Loberg R, Lofton-Day C, Zehnbauer B. Reference samples to compare next generation sequencing test performance for oncology therapeutics and diagnosis: SPOT/Dx quality assurance pilot. Am J Clin Pathol. 2022; 157:628-638. |
| Leung M, Ji J, Baker S, Buchan JF, Sivakumaran TA, Krock BL, Hutchins R, Bayrak-Toydemir P, Pfeifer J, Cremona ML, Funke B, Santani AB. A framework of critical considerations in clinical exome reanalyses by Clinical and Laboratory Standards institute. J Mol Diagn. 2022;24:177-188. |
| Cushman-Vokoun A, Lauring J, Pfeifer J, Olson D, Berry A, Thorson J, Volkerding K, Myles J, Barbeau J, Chandra P, Li M, Vance G, Jensen BW, Hansen MY, Yohe S. Laboratory and clinical implications of incidental germline findings during tumor testing. Arch Pathol Lab Med. 2022;146:70-77. |
| Sun L, McNulty SN, Evenson MJ, Zhu X, Mann PR, Duncavage EJ, Pfeifer JD. Clinical implications of a targeted RNA sequencing panel in the detection of gene fusions in solid tumors. J Mol Diagn. 2021;23:1749-1760. |
| McNulty SN, Evenson M, Riley M, Yoest J, Corliss MC, Heusel JW, Duncavage EJ, Pfeifer JD. An NGS test for severe combined neutropenia: utility in a broader clinicopathologic spectrum of disease. J Mol Diagn. 2021;23:200-211. |
| McNulty SN, Mann P, Robinson J, Duncavage EJ, Pfeifer JD. Impact of reducing DNA input on next generation sequencing library complexity and variant detection. J Mol Diagn. 2020;22:720-727. |
| McNulty SN, Parikh BA, Duncavage EJ, Heusel JW, Pfeifer JD. Optimization of population frequency cutoffs for differentiating germline and somatic variants in tumor-only NGS assays. J Mol Diagn. 2019;21:903-912. |
| Santani A, Simen B, Briggs M, Lebo M, Merker J, Nikiforova M, Vasalos P, Voelkerding K, Pfeifer J, Funke B. Designing and implementing NGS tests for inherited disorders: A practical framework with step-by-step guidance for clinical laboratories. J Mol Diagn. 2019;21:369-374. |
| Jennings L, Arcila M, Corless C, Kamel-Reid S, Lubin I, Pfeifer J, Voelkerding K, Nikiforova M. Guidelines for validation of next generation sequencing (NGS)-based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and the College of American Pathologists. J Mol Diagn. 2017;19:341-365. |
| Duncavage EJ, Abel HJ, Pfeifer JD. In silico proficiency testing for clinical next-generation sequencing. J Mol Diagn. 2017;19:35-42. |
| Duncavage E, Abel H, Merker J, Bodner J, Zhao Q, Voelkerding K, Pfeifer J. A model study of in silico proficiency testing for clinical next generation sequencing. Arch Pathol Lab Med. 2016;140:1085–1091. |
| Aranake-Chrisinger JS, Huettner PC, Hagemann AR, Pfeifer JD. Use of STR analysis in unusual presentations of trophoblastic tumors and their mimics. Hum Pathol. 2016;52:92-100. |
| Sehn JK, Spencer DH, Pfeifer JD, Bredemeyer AJ, Cottrell CE, Abel HJ, Duncavage EJ. Human specimen admixture in clinical next-generation sequencing data. Am J Clin Pathol. 2015;144:667-74. |
| Gru AA, Becker N, Dehner LP, Pfeifer JD. Mucosal Melanoma: Correlation of clinicopathologic, prognostic, and molecular features. Melanoma Res. 2014;24:360-70. |
| Sehn JK, Hagemann I, Pfeifer JD, Cottrell C, Lockwood C. Diagnostic utility of targeted next generation sequencing in problematic cases. Am J Surg Pathol. 2014;38:534-41. |
| Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Lockwood CM, Hagemann IS, O’Guin SM, Burcea LC, Sawyer CS, Oschwald DM, Stratman JL, Sher DA, Johnson MR, Brown JT, Cliften PF, George B, McIntosh LD, Shrivastava S, Nguyen T, Payton JE, Watson MA, Crosby SD, Head RD, Mitra RD, Nagarajan R, Kulkarni S, Seibert K, Virgin IV HW, Milbrandt J, Pfeifer JD. Validation of a next-generation sequencing assay for clinical molecular oncology. J Mol Diagn. 2014;16;89-105. |
| Pfeifer JD, Liu J. Rate of occult specimen provenance complications in routine clinical practice. Am J Clin Pathol. 2013;139:93-100. |
| Pfeifer JD, Payton J, Zehnbauer BA. The changing spectrum of DNA-based specimen provenance testing in surgical pathology. Am J Clin Pathol 2011;135:132-8. |
Assistant
Jill Guess
314-362-0108
jill.guess@wustl.edu
BJCIH Room 3422