Neuroendocrine Tumors in the Stomach, Duodenum, and Pancreas Accompanied by Novel MEN1 Gene Mutation.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma. His brother's daughter also had pancreatic nodules, but had not undergone surgery. The lesion was treated by endoscopic submucosal dissection and diagnosed as a grade 1 NET. Another small NET was detected in the second duodenal portion, resected by endoscopic submucosal dissection, which was also diagnosed as a grade 1 NET. During evaluation, three nodules were detected in the pancreas, and no evidence of pituitary, parathyroid tumors, or metastasis was observed. After surgery, the pancreatic lesions were diagnosed as NETs, with the same immunohistochemical patterns as those of the stomach and duodenum. Genetic testing was performed, and a heterozygous mutation was detected in the MEN1 gene, which is located on 11q13.
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
Min A
MA
Yang
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
Woong Ki
WK
Lee
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
Hong Shik
HS
Shin
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
Sung Hyun
SH
Park
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
Byung Sun
BS
Kim
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
Ji Woong
JW
Kim
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
Jin Woong
JW
Cho
Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
So Hee
SH
Yun
D004252:DNA Mutational Analysis; D004386:Duodenum / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology*; D005753:Gastric Mucosa / Q000378:metabolism; D018095:Germ-Line Mutation; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics; D010179:Pancreas / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013270:Stomach / Q000000981:diagnostic imaging / Q000473:pathology*; D014057:Tomography, X-Ray Computed
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins
Endoscopy; Germ-line mutation; INDEL mutation; Multiple endocrine neoplasia type 1; Neuroendocrine tumors