Research Papers:

Lynch syndrome-related small intestinal adenocarcinomas

Sun-Young Jun _, Eui-Jin Lee, Mi-Ju Kim, Sung Min Chun, Young Kyung Bae, Soon Uk Hong, Jene Choi, Joon Mee Kim, Kee-Taek Jang, Jung Yeon Kim, Gwang Il Kim, Soo Jin Jung, Ghilsuk Yoon and Seung-Mo Hong

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Oncotarget. 2017; 8:21483-21500. https://doi.org/10.18632/oncotarget.15277

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Sun-Young Jun1, Eui-Jin Lee2, Mi-Ju Kim3, Sung Min Chun4, Young Kyung Bae5, Soon Uk Hong6, Jene Choi4, Joon Mee Kim7, Kee-Taek Jang8, Jung Yeon Kim9, Gwang Il Kim10, Soo Jin Jung11, Ghilsuk Yoon12, Seung-Mo Hong4

1Department of Pathology, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea

2Institute of Catholic Integrative Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Incheon, Korea

3Asan Institute for Life Science, Asan Medical Center, Seoul, Korea

4Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

5Department of Pathology, Yeungnam University College of Medicine, Daegu, Korea

6Department of Pathology, Soonchunhyang University Cheonan Hospital, Cheonan, Korea

7Department of Pathology, Inha University College of Medicine, Incheon, Korea

8Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

9Department of Pathology, Inje University Sanggye Paik Hospital, Seoul, Korea

10Department of Pathology, CHA Bundang Medical Center, CHA University, Seongnam, Korea

11Department of Pathology, Inje University College of Medicine, Busan, Korea

12Department of Pathology, Kyungpook National University School of Medicine, Daegu, Korea

Correspondence to:

Seung-Mo Hong, email: [email protected]

Ghilsuk Yoon, email: [email protected]

Keywords: small intestinal adenocarcinoma, Lynch syndrome, hereditary nonpolyposis colorectal cancer syndrome, microsatellite instability, DNA mismatch repair

Received: September 09, 2016     Accepted: January 24, 2017     Published: February 11, 2017


Lynch syndrome is an autosomal-dominant disorder caused by defective DNA mismatch repair (MMR) genes and is associated with increased risk of malignancies in multiple organs. Small-intestinal adenocarcinomas are common initial manifestations of Lynch syndrome. To define the incidence and characteristics of Lynch syndrome-related small-intestinal adenocarcinomas, meticulous familial and clinical histories were obtained from 195 patients with small-intestinal adenocarcinoma, and MMR protein immunohistochemistry, microsatellite instability, MLH1 methylation, and germline mutational analyses were performed. Lynch syndrome was confirmed in eight patients (4%), all of whom had synchronous/metachronous malignancies without noticeable familial histories. Small-intestinal adenocarcinomas were the first clinical manifestation in 37% (3/8) of Lynch syndrome patients, and second malignancies developed within 5 years in 63% (5/8). The patients with accompanying Lynch syndrome were younger (≤50 years; P=0.04) and more likely to have mucinous adenocarcinomas (P=0.003), and tended to survive longer (P=0.11) than those with sporadic cases. A meticulous patient history taking, MMR protein immunolabeling, and germline MMR gene mutational analysis are important for the diagnosis of Lynch syndrome-related small-intestinal adenocarcinomas. Identifying Lynch syndrome in patients with small-intestinal adenocarcinoma can be beneficial for the early detection and treatment of additional Lynch syndrome-related cancers, especially in patients who are young or have mucinous adenocarcinomas.

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