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Double small bowel cancers leading to the diagnosis of Lynch syndrome with germline MSH6 mutation in an elderly patient

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Abstract

A female patient in her 80s was referred to our hospital because of an ileal tumor identified by capsule endoscopy. FDG-PET 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.

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Abbreviations

FDG-PET:

Fluorodeoxyglucose-positron emission tomography

MSI-H:

Microsatellite instability-high

LS:

Lynch syndrome

MMR:

Mismatch repair

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Authors and Affiliations

  1. Department of Gastroenterology and Hepatology, Sapporo Medical University, S1W16, Chuo-ku, Sapporo, 060-8543, Japan

    Sae Ohwada, Kentaro Yamashita, Tomoe Kazama, Kei Mitsuhashi, Akiko Ichiyanagi, Kohei Nakachi, Hiro-o Yamano & Hiroshi Nakase

  2. Department of Surgery, Surgical Oncology and Science, Sapporo Medical University, Sapporo, Japan

    Takayuki Nobuoka & Tatsuya Ito

  3. Department of Internal Medicine, Hokkaido Haboro Hospital, Haboro, Japan

    Wataru Sasao

Authors
  1. Sae Ohwada
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  2. Kentaro Yamashita
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  3. Tomoe Kazama
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  4. Kei Mitsuhashi
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  5. Akiko Ichiyanagi
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  6. Kohei Nakachi
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  7. Hiro-o Yamano
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  8. Takayuki Nobuoka
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  9. Tatsuya Ito
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  10. Wataru Sasao
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  11. Hiroshi Nakase
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Corresponding author

Correspondence to Kentaro Yamashita.

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All authors declare no conflict of interest for this study.

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All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

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Informed consent was obtained from all patients for being included in the study.

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Ohwada, S., Yamashita, K., Kazama, T. et al. Double small bowel cancers leading to the diagnosis of Lynch syndrome with germline MSH6 mutation in an elderly patient. Clin J Gastroenterol 13, 766–770 (2020). https://doi.org/10.1007/s12328-020-01147-y

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  • DOI: https://doi.org/10.1007/s12328-020-01147-y

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