Korean J Gastroenterol.  2019 Oct;74(4):227-231. 10.4166/kjg.2019.74.4.227.

Synchronous Gastrointestinal Stromal Tumor and Ampullary Neuroendocrine Tumor in Association with Neurofibromatosis Type 1: A Report of Three Cases

• Park EK
• Kim HJ
• Lee YH
• Koh YS
• Hur YH
• Cho CK

• KMID: 2460988
• DOI: http://doi.org/10.4166/kjg.2019.74.4.227

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. The pathogenesis of NF1 is suggested to be an alteration of the NF-1 gene, which normally functions as a tumor suppressor. A mutation of NF-1 causes the development of viable tumors in various sites. On the other hand, the synchronous manifestation of a gastrointestinal stromal tumor (GIST) and neuroendocrine tumor (NET) in the background of NF1 is extremely rare. This paper reports three cases treated with surgical intervention along with the long-term follow-up results. Three patients showed synchronous ampullary NET and GIST in association with NF1 supported by postoperative histopathologic analysis. Surgical treatments, such as pancreatoduodenectomy and local excision were applied. No recurrence occurred during the postoperative follow-up period of 10, 9, and 2.7 years. Synchronous GIST and NET in the background of NF1 is extremely rare, but the possible coexistence of other tumors in NF1 patients is relatively higher than that in the general population. Furthermore, both NETs and GISTs occurring in NF1 patients tend to be smaller in size compared to that in the general population. Therefore, when NF1 patients present with vague abdominal discomfort, close attention must be paid to identifying the coexistence of other neoplasms.

Keyword

Neurofibromatosis 1; Neuroendocrine tumors; Gastrointestinal stromal tumors; Surgical treatment

MeSH Terms

Follow-Up Studies
Gastrointestinal Stromal Tumors*
Hand
Humans
Neuroendocrine Tumors*
Neurofibromatoses*
Neurofibromatosis 1*
Pancreaticoduodenectomy
Recurrence

Figure

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  Fig. 1 Preoperative gastroduodenoscopic findings of a periampullary mass (A), and a submucosal mass located at the duodenojejunal junction (B) (case 1).

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  Fig. 2 Preoperative abdominal computed tomography of a periampullary mass (A), and mass in the duodenojejunal junction (B) (case 1).

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  Fig. 3 Surgical specimen showing an approximately 1.5 cm-sized luminal protruding ampullary mass (black arrow) and another 1.6 cm-sized submucosal mass (white arrowhead) (case 1).

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  Fig. 4 (A) One nodule was the spindle type of gastrointestinal stromal tumor (H&E, ×20). The tumor cells showed an immunoreactivity for c-kit (inset, ×100). (B) The other nodule was a well differentiated neuroendocrine carcinoma. The tumor cells of the neuroendocrine tumor were arranged in a tubular or trabecular pattern. Nuclear atypism and pleomorphism were not detected (H&E, ×40). Tumor cells of the larger nodule showed an immunoreactivity for CD56 (inset, ×400) (case 1).

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  Fig. 5 Surgical specimen showing a hard mass over the ampulla of Vater (A) and multiple nodules in the submucosal layer of small intestine (B). The immunohistopathological stained images showed that the submucosal smaller nodule (C) was the spindle cell type of gastrointestinal stromal tumor (H&E, ×20). The tumor cells showed an immunoreactivity for c-kit (inset, ×100). (D) The larger nodule was a well-differentiated neuroendocrine carcinoma, originating from the pancreas (H&E, ×20). Tumor cells of the larger nodule showed an immunoreactivity for CD56 (inset, ×400) (case 2).

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  Fig. 6 Preoperative abdominal computed tomography showing a weakly enhanced mass at the ampulla of Vater (A) and marked dilatation of the bile duct and pancreatic duct. (B) Another mass was found between the pancreas head and posterior to the duodenal 2nd portion. (C) Gastroduodenoscopy revealed prominent papilla of Vater with ulceration. (D) A physical examination of this patient showed multiple neurofibromas over the upper extremities and trunk (case 3).

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