Double small bowel cancers leading to the diagnosis of Lynch syndrome with germline MSH6 mutation in an elderly patient
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CASE REPORT
Double small bowel cancers leading to the diagnosis of Lynch syndrome with germline MSH6 mutation in an elderly patient Sae Ohwada1 · Kentaro Yamashita1 · Tomoe Kazama1 · Kei Mitsuhashi1 · Akiko Ichiyanagi1 · Kohei Nakachi1 · Hiro‑o Yamano1 · Takayuki Nobuoka2 · Tatsuya Ito2 · Wataru Sasao3 · Hiroshi Nakase1 Received: 17 March 2020 / Accepted: 26 May 2020 © Japanese Society of Gastroenterology 2020
Abstract A female patient in her 80s was referred to our hospital because of an ileal tumor identified by capsule endoscopy. FDGPET suggested double intestinal tumors not only in the ileum but also in the jejunum. The patient has cancer past history including sigmoid colon, rectum, and endometrium, and also had cancer family history fulfilling the revised Amsterdam criteria. Double balloon enteroscopy disclosed two ulcerated tumors in the jejunum and the ileum. Biopsy was diagnosed as adenocarcinoma pathologically, and microsatellite instability-high (MSI-H) genetically. Surgical resection was performed, and the jejunal and the ileal tumors were tubular (T2N0M0) and mucinous adenocarcinoma (T4N0M0), respectively. Germline mutation analysis revealed a pathogenic splice-site mutation in MSH6. Keywords Small bowel cancer · Lynch syndrome · Capsule endoscopy Abbreviations FDG-PET Fluorodeoxyglucose-positron emission tomography MSI-H Microsatellite instability-high LS Lynch syndrome MMR Mismatch repair
Introduction Small bowel cancer is rare in the general population, but its incidence is increased in certain nongenetic or genetic diseases such as Crohn’s disease, celiac disease, familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, and Lynch syndrome (LS) [1–3]. LS, caused by germline mutations of the mismatch repair (MMR) genes, has a high cumulative risk of colorectal, endometrial and other * Kentaro Yamashita [email protected] 1
Department of Gastroenterology and Hepatology, Sapporo Medical University, S1W16, Chuo‑ku, Sapporo 060‑8543, Japan
2
Department of Surgery, Surgical Oncology and Science, Sapporo Medical University, Sapporo, Japan
3
Department of Internal Medicine, Hokkaido Haboro Hospital, Haboro, Japan
tumors including small bowel cancer. Although the risk of small bowel cancer is increased in LS, its incidence is much smaller than colorectal cancer [4]. Little is known about clinicopathological features of small bowel cancers in LS, but past studies demonstrated that the majority of small bowel cancer was observed in MLH1 or MSH2 mutation carriers [5–7]. Here we present a rare case of double small bowel cancers that has led to the diagnosis of LS with MSH6 mutation.
Case report An 81-year-old female was referred to our hospital because of an ileal tumor identified by capsule endoscopy. She had persistent iron deficiency anemia with positive fecal occult blood test. Upper gastrointestinal endoscopy and colonoscopy did not find any lesions, but subsequent capsule endoscopy revealed a circumferential tumor in the ileum (Fig. 1a). She had no symptom on admission to
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