GI Interesting Case Presentation

Using a case based approach the topics of inherited pancreatic adenocarcinoma, doxycycline induced gastrointestinal mucosal injury and gastrointestinal polyposis syndromes are reviewed. Several germline genetic cancer syndromes include pancreatic adenocarcinoma, however the majority of hereditary pancreatic adenocarcinoma is not part of a cancer syndrome and only rare causative genes have been identified. The syndromes are reviewed and the histologic features of Palladin mutation related hereditary pancreatic pathology is described in order to gain an understanding of the clinical diagnostic paradigm to identify affected patients. Doxycycline induced gastrointestinal mucosal injury, especially within the stomach, has been recently described. The typical pattern of injury along with other patterns of drug induced gastric injury are discussed. Gastrointestinal polyposis syndromes, in particular Cowden’s syndrome, is important to be aware of as affected patients are at increased risk of several extra-intestinal malignancies. These patients may come to clinical attention due to the identification of various histology colonic polyps. The polyp types which should raise concern for Cowden’s syndrome and other polyposis syndromes are discussed.

Lecture Presenters
Wade Samowitz, MD
Wade Samowitz, MD
Medical Director, Solid Tumor Molecular Diagnostics and Histology, ARUP Laboratories
Staff Pathologist, Anatomic Pathology, ARUP Laboratories
Professor of Pathology, University of Utah School of Medicine

Dr. Samowitz is a medical director of solid tumor molecular diagnostics and histology, and a staff pathologist for the Anatomic Pathology Division at ARUP, as well as a professor of pathology at the University of Utah School of Medicine. He received his MD from SUNY Downstate, and completed residency training in anatomic pathology at the University of Chicago and fellowships in gastrointestinal pathology at Johns Hopkins Hospital. Specializing in gastrointestinal pathology and the molecular genetics of colorectal cancer, Dr. Samowitz is the medical director for numerous molecular tests in gastrointestinal cancer and other tumors, including microsatellite instability by IHC and PCR, mutational testing for BRAF, PIK3CA, and NRAS, evaluation for molar pregnancy, and specimen identification.

Erinn Downs-Kelly, DO, MS
Erinn Downs-Kelly, DO, MS
Medical Director, Anatomic Pathology and Oncology, ARUP Laboratories
Associate Professor of Pathology, University of Utah School of Medicine

Dr. Downs-Kelly is a medical director of the Anatomic Pathology and Oncology divisions at ARUP and an associate professor of pathology at the University of Utah School of Medicine. She received her DO from Michigan State University and her MS from Northern Michigan University. Following her residency in anatomic and clinical pathology at the Cleveland Clinic, Dr. Downs-Kelly completed a gastrointestinal, hepatic, and pancreaticobiliary pathology fellowship at the Cleveland Clinic and a breast pathology fellowship at the MD Anderson Cancer Center. Dr. Downs-Kelly is a member of various professional organizations, including the College of American Pathologists, American Society for Clinical Pathology, and the International Society of Breast Pathology. Her research interests include non-obligate precursor lesions of the breast, as well as prognostic and predictive marker testing.

Mary Bronner, MD
Mary Bronner, MD
Division Chief, Anatomic Pathology and Oncology, ARUP Laboratories
Dr. Carl R. Kjeldsberg Endowed Chair in Pathology, University of Utah School of Medicine
Professor of Pathology, University of Utah School of Medicine

Dr. Bronner is the division chief of the Anatomic Pathology and Oncology divisions at ARUP and Carl R. Kjeldsberg presidential endowed professor of pathology at the University of Utah School of Medicine. Dr. Bronner received her MD from the University of Pennsylvania and completed her pathology residency training and chief residency at the Hospital of the University of Pennsylvania in Philadelphia. Dr. Bronner’s honors include her election as president of the GI Pathology Society, election as council member of the United States and Canadian Academy of Pathology, and, in 2005, the award of the Arthur Purdy Stout Prize, recognizing her work as a surgical pathologist under the age of 45 whose research publications have had a major impact on diagnostic pathology.

Dr. Bronner is an editorial journal board member for Human Pathology, The American Journal of Surgical Pathology, and Modern Pathology. She has served as an investigator on numerous NIH and foundation grants over the course of her career and has published over 100 peer-reviewed articles and numerous book chapters. Her research interests include molecular biomarkers for the early detection and prevention of gastrointestinal cancers arising in chronic inflammatory disorders of the intestine, stomach, liver, and pancreas, which together make up the most important causes of human cancer worldwide.

Objectives

After this presentation, participants will be able to:

Become familiar with the know cancer syndromes and the genes in hereditary pancreatic adenocarcinoma.
Recognize the distinctive features of Palladin mutation related hereditary pancreatic pathology and understand the screening paradigm that has been shown to reduce the risk of familial pancreatic cancer.
Describe the histomorphologic features of doxycycline induced gastric injury.
Describe the gastrointestinal polyps associated with hereditary cancer syndromes, their diagnoses, and clinical consequences.