Korean J Gastroenterol.  2017 Mar;69(3):181-186. 10.4166/kjg.2017.69.3.181.

Neuroendocrine Tumors in the Stomach, Duodenum, and Pancreas Accompanied by Novel MEN1 Gene Mutation

• Yang MA
• Lee WK
• Shin HS
• Park SH
• Kim BS
• Kim JW
• Cho JW
• Yun SH

• KMID: 2383412
• DOI: http://doi.org/10.4166/kjg.2017.69.3.181

Abstract

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.

Keyword

Multiple endocrine neoplasia type 1; Neuroendocrine tumors; INDEL mutation; Endoscopy; Germ-line mutation

MeSH Terms

Adenoma
Duodenum*
Endoscopy
Genetic Testing
Germ-Line Mutation
Humans
INDEL Mutation
Meningioma
Middle Aged
Multiple Endocrine Neoplasia Type 1*
Neoplasm Metastasis
Neuroendocrine Tumors*
Nuclear Family
Pancreas*
Pituitary Gland
Rare Diseases
Siblings
Stomach*

Figure

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  Fig. 1. Abdominal computed tomography scan. (A) An arterial enhancing nodule in the pancreatic neck (arrow) and one thick-walled cystic nodule with a mural component and marginal calcification in the tail (arrowhead). (B) Another arterial enhancing nodule in the pancreatic tail (arrow).

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  Fig. 2. Endoscopic findings for the neuroendocrine tumors in the stomach. (A) A raised nodule with a whitish color and 8×8 mm in the area of the lesser curvature at the lower body of the stomach (arrow). (B) Endoscopic submucosal dissection of the gastric lesion using a soft transparent hood. (C) The completely resected gastric lesion.

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  Fig. 3. Endoscopic findings for a 3×3 mm yellowish nodule in the second duodenal portion (arrow).

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  Fig. 4. Pathologic findings after endoscopic submucosal dissection of a gastric neuroendocrine tumor invading the submucosa and mucosa. (A) Tumor cells forming a mostly glandular and trabecular pattern (H&E, ×100). (B) Immunoreactivity for synaptophysin (synaptophysin, ×100).

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  Fig. 5. Pathologic findings for an endoscopically-resected mucosal specimen containing a duodenal neuroendocrine tumor. (A) Neuroendocrine tumor (arrow) and normal duodenal epithelium (arrowhead) (H&E, ×100). (B) Monotonous proliferation of small round cells with hyperchromatic nuclei and scant cytoplasm forming nests, exhibiting a trabecular growth pattern (H&E, ×100). (C) Immunoreactivity for synaptophysin (synaptophysin, ×100).

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  Fig. 6. DNA sequencing analysis of exon 2 of the MEN1 gene, showing a heterozygous c.2_9delinsAGGGGGTT mutation. MEN1, multiple endocrine neoplasia type 1.

Reference

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