ACG Wrap-up: Fecal Transplant; Lynch Syndrome Screening; Probiotics for Pain
(MedPage Today) -- Additional highlights from this year's meeting
A 63-year-old female with known history of Lynch Syndrome with MSH2 gene deletion presented to the emergency department with left flank and epigastric pain worsening over one week. She had a three-year history of intermittent gross hematuria, with no masses or hydronephrosis on non-contrast abdominal and pelvic CT scan 2.5 years prior. Review of systems was otherwise negative. Patient reported previously negative evaluation with cystoscopy and repeat urinalysis for gross hematuria by outside urologist.
We present the case of a 68-year-old male with a confirmed diagnosis of Lynch syndrome secondary to a germlineMSH2 mismatch-repair gene-mutation who presented with 2 months history of non-specific abdominal pain. After imaging work-up, the patient was found to have a right upper quadrant, retroperitoneal mass. Biochemical tests were without any evidence of a hormonally active process. Fine needle aspiration of the mass revealed a poorly differentiated carcinom a of unknown etiology. The lesion was resected and found to be consistent with ectopic ACC with an associatedMSH2 mutation.
We present a 59 year-old female with Lynch Syndrome and a 3 cm low-grade UTUC in the right mid ureter on a CT scan for abdominal pain. Patient elected for segmental ureterectomy with a buccal mucosa graft reconstruction due to location of the tumor and risk of bilateral disease.
Question: A 62-year-old female with Lynch syndrome had a CT scan performed after a fall, which incidentally discovered multiple polypoid lesions within the stomach. The patient had a history of endometrial adenocarcinoma at age 50, as well as a family history significant for a sister with colon cancer at age 59. Based on this cancer history she had recently undergone genetic testing which revealed a pathogenic PMS2 mutation, consistent with Lynch syndrome. The patient was asymptomatic from a gastrointestinal perspective without any nausea, vomiting, abdominal pain, diarrhea, rectal bleeding, or unintentional weight loss.
We present an unusual pediatric case of invasive upper tract urothelial carcinoma with an associated genetic predisposition. A 14-year-old female presented with intermittent right flank pain, and was found to have a poorly functioning hydronephrotic right kidney. Laparoscopic nephrectomy was performed. Pathology demonstrated upper tract urothelial carcinoma, and she subsequently underwent completion ureterectomy. Genetic studies demonstrated a double-hit constitutional deletion of a DNA mismatch repair protein, revealing a rare Lynch syndrome variant known as Constitutional Mismatch Repair Deficiency Syndrome.
We present an unusual pediatric case of invasive upper tract urothelial carcinoma with an associated genetic predisposition. A 14 year-old female presented with intermittent right flank pain, and was found to have a poorly functioning hydronephrotic right kidney. Laparoscopic nephrectomy was performed. Pathology demonstrated upper tract urothelial carcinoma, and she subsequently underwent completion ureterectomy. Genetic studies demonstrated a double-hit constitutional deletion of a DNA mismatch repair protein, revealing a rare Lynch syndrome variant known as Constitutional Mismatch Repair Deficiency Syndrome (CMMRD).
Michelle Chi: I Have No Relevant Financial Relationships To Disclose
A 43-year-old man presented to his primary care physician in January 2013 for a routine comprehensive physical evaluation. On initial presentation, he reported feeling well with no complaints. Review of systems was negative. The patient denied any symptoms of constitutional weight loss, fatigue, pelvic pain, urinary symptoms, hematuria, or change in sexual function. His past medical history was significant for cutaneous lipomas, diverticulosis, and colon polyps, including a tubulovillous adenoma and a tubular adenoma removed during colonoscopies in 2004 and 2012, respectively (Fig. 1).
March is Colon Cancer Awareness Month, today’s TBT post provides some helpful information on colorectal cancer. Michelle was a healthy, active 47 year old. She tried to eat right and she exercised. It looked like the hard work was paying off: no health issues and lots of energy. Her work in the healthcare field motivated her to see her doctors regularly for checkups, to get mammograms and to have her blood work done annually. She knew she was getting close to the magical age of 50 and that soon she would need to get a colonoscopy to screen for colorectal cancer. Since she had no family history of the disease sh...
Ovarian cancer is always the bridesmaid, never the bride. At weddings, there’s a reason we focus on the bride. It’s her big event. She’s the center of attention, and rightly so. But sometimes, the bridesmaid’s speech has more to tell us — and we should listen. We hear a lot about breast cancer. It affects a quarter of a million women and is fatal 15 to 20 percent of the time. Breast cancer is a serious and important disease that merits the time, money, and resources we spend on funding and public awareness each year. But what do you know about ovarian cancer, a disease with a fatality rate of ...