The majority of variants of uncertain significance (VUS) end up being normal polymorphisms that are not linked to increased cancer risk. Rarely, a VUS is later reclassified as a pathogenic variant that would then inform medical management recommendations. In these cases, patients with the reclassified VUS are contacted for follow-up consultation, sometimes years after the gene test was performed.
The presence of a newly identified pathogenic variant can also raise difficulties for advising patients. The result may be found in a gene for which we do not yet appreciate the full spectrum of cancers and the lifetime risks associated with these cancers, and screening recommendations are not necessarily developed. Continue reading
Roux-Y reconstruction with esophagojejunostomy. ©Steinemann et. al.; licensee BioMed Central Ltd. 2011.
Minimally invasive surgical treatment options are helping to revolutionize surgical care for patients with many upper gastrointestinal cancers and pre-cancerous syndromes at Penn State Health. Hereditary Diffuse Gastric Cancer (HDGC) is an inherited, autosomal dominant syndrome with high (80%) penetrance which results in invasive stomach cancers (often multifocal) at a relatively young age (30-50 years old)1. Mutations in the E-cadherin (CDH1) are usually the cause of HDGC and patients often have a strong family history of stomach cancer and breast cancer (lobular breast cancer is also associated with CDH1 mutations)2. Continue reading
Endoscopic suturing device technology has improved in recent years. In addition, it has brought improved success in the immediate repair of selected GI perforations and the potential to allow natural orifice transluminal endoscopic surgery (NOTES) to be performed in a safer and more effective way.1 Marking the first documented use of the Overstitch™ endoscopic suturing device (Apollo Endosurgery, Austin, Texas) for the repair of a duodenal perforation in conjunction with a NOTES abdominal washout, the Penn State Health Milton S. Hershey Medical Center team of Abraham Mathew, M.D., Matthew T. Moyer, M.D., M.S., and fellow, Ryan Gaffney, D.O., presented their success with this technique at the third annual American College of Gastroenterology international endoscopy video competition in October 2015, Honolulu, Hawaii.2 The video presented two cases in which surgery-sparing endoscopic repair of a duodenal perforation was successfully employed. As Dr. Gaffney explains, “In both cases, the risks of morbidity or mortality with open or laparoscopic surgery were considered very high and an endoscopic approach was regarded as a potentially safer, life-saving option.”
As the number of ambulatory endoscopies increases, it is imperative to identify and work to prevent complications. Respiratory complications are considered the most common associated with such procedures (including coughing, fever and shortness of breath) and are documented for an estimated 5.3 percent of patients following an ambulatory endoscopy where propofol was administered.1 Abraham Mathew, M.D., and Lisa Yoo, D.O., Gastroenterology and Hepatology, found that 1.1 percent of adults who underwent a routine ambulatory endoscopy experienced pneumonia or aspiration within 30 days after the procedure. The vast majority of cases involved pneumonia, while cases of aspiration were very low (0.07 percent).
Mucin covering the liver
For patients with peritoneal dissemination of an abdominal malignancy (e.g., carcinomatosis), cytoreductive surgery (CRS) paired with hyperthermic intraperitoneal chemotherapy (HIPEC) can significantly increase survival time.1 According to Colette Pameijer, M.D., FACS, associate professor of surgery, “The CRS/HIPEC technique offers hope to these patients. It adds a significant amount of time to their lives, which would otherwise be counted in months, rather than years.” Metastatic cancer cells implanted within the peritoneal cavity or its surfaces are not detectable by CAT scan, and do not respond well to standard resection and systemic chemotherapy. Patients with carcinomatosis who receive palliative treatment have a median survival time of six months.1 Continue reading
As techniques and technology have rapidly advanced over the past decade, endoscopy has had a large impact on how many gastrointestinal (GI) conditions are treated. “One of the biggest shifts we have made clinically in terms of the number of patients treated is endoscopic resection of large colorectal polyps,” says John Levenick, M.D., Penn State Hershey Gastroenterology and Hepatology. In the past, these would have been automatically referred for open or laparoscopic resection. However, not all large polyps exhibit the same clinical features and some pose relatively greater challenges and risks during resection. Levenick and colleagues determined how well an endoscopic approach performed for management across polyp types based on gross morphology. Continue reading