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.
Finally, as an outgrowth of our studies of mesenchymal hamartoma of the liver (and the frequently associated tumor undifferentiated embryonal sarcoma), we have cloned the breakpoint of the associated t(11;19) translocation. One of the genes involved in the translocation is MALAT1, which is thought to encode an RNA that functions as part of the spliceosome. Transgenic mice are currently being produced to enable more detailed study of this potential novel route of tumorigesis.
Editorial Responsibilities
| Present | Editorial Board | American Journal of Clinical Pathology |
| Present | Editorial Board | Modern Pathology |
| Present | Member | NCCN Soft Tissue Sarcoma Panel |
| Present | Ad hoc reviewer | Human Pathology |
| Present | Ad hoc reviewer | Diagnostic Cytopathology |
| Present | Ad hoc reviewer | Expert Opinion on Medical Diagnostics |
| Present | Ad hoc reviewer | Clinical Orthopaedics and Related Research |
| Present | Ad hoc reviewer | Journal of Molecular Diagnostics |
| Present | Ad hoc reviewer | Thyroid |
| Present | Ad hoc reviewer | Hepatology |
Service to the Department
| 2004 – 2007 | Director, Pathology Residency Program |
| Present | Director, Molecular Pathology Laboratory, Division of Anatomic Pathology |
| Present | Director, Molecular Genetic Pathology Fellowship Program |
| Present | Member, Resident Selection Committee |
Service to the University
| Present | Member, Protocol Review and Monitoring Committee, Siteman Cancer Center |
| Present | Medical Student (2nd Year) lectures on Inflammation and Tissue Repair, Amyloid; laboratory sections on Pulmonary Pathophysiology |
Selected Publications
| Duncavage E, Zehnbauer B, Pfeifer JD. Prevalence of Merkel cell polyomavirus in Merkel cell carcinoma. Mod Pathol. 2009;22:516-521, 2009 Abstract |
| Lennerz JKM, Perry A, Mills JC, Huettner PC, Pfeifer JD. Mucoepidermoid carcinoma of the cervix. Another tumor with the t(11;19) – associated CRTC1-MAML2 gene fusion. Am J Surg Path. 2009;33:835-843, 2009 Abstract |
| Duncavage EJ, Le B-M, Wang D, Pfeifer JD. Merkel Cell Polyomavirus: A specific marker for Merkel Cell Carcinoma in histologically similar tumors. Am J Surg Pathol. 2009;33:1771-1777, 2009Abstract |
| Rajaram V, Knezevich S, Bove KE, Perry A, Pfeifer JD. DNA sequence of the translocation breakpoints in undifferentiated embryonal sarcoma arising in mesenchymal hamartoma of the liver harboring the t(11;19)(q11;q13.4) translocation. Genes Chromosomes Cancer 2007;46:508-513, 2007 Abstract |
| Suba EJ, Pfeifer JD, Raab SS. Patient identification error among prostate needle core biopsy specimens: are we ready for a “DNA timeout?”. J Urol. 2007;178:1245-1248, 2007 Abstract |
| Bridge RS, Rajaram V, Dehner LP, Pfeifer JD, Perry A. Molecular diagnosis of Ewing sarcoma/primitive neuroectodermal tumor in routinely processed tissue: a comparison of two FISH strategies and RT-PCR in malignant round cell tumors. Mod Pathol 2006;19:1-8, 2006 Abstract |
| Covinsky M, Gong S, Rajaram V, Perry A, Pfeifer JD. EWS-ATF1 fusion transcripts in gastrointestinal tumors previously diagnosed as malignant melanoma. Hum Pathol 2005;36:74-81, 2005 Abstract |
| O’Sullivan M, Budhraja V, Sadovsky Y, Pfeifer JD. Tumor heterogeneity affects the precision of microarray analysis. Diag Mol Pathol 2005;14:65-71, 2005 Abstract |
| Cook JR, Pfeifer JD, Dehner LP. Adult mesenchymal hamartoma of the liver: association with distinct clinical features and histologic changes. Hum Pathol 2002;33:893-898, 2002 Abstract |
| Hill DA, O’Sullivan MJ, Zhu X, Vollmer RT, Humphrey PA, Dehner LP, Pfeifer JD.. Practical application of molecular genetic testing as an aid to the surgical pathologic diagnosis of sarcomas: a prospective study. Am J Surg Pathol. 2002 Aug;26(8):965-77, 2002 Abstract |
| O’Sullivan MJ, Perlman EJ, Furman J, Humphrey PA, Dehner LP, Pfeifer JD. Visceral primitive peripheral neuroectodermal tumors – a clinicopatholgic and molecular study. Hum Pathol 2001;32:1109-1115, 2001 Abstract |
Assistant
Jill Guess
314-362-0108
jill.guess@wustl.edu
BJCIH Room 3422