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Case Reports
. 2022 Apr 11;14(4):e24048.
doi: 10.7759/cureus.24048. eCollection 2022 Apr.

A Rare Case of the Coexistence of Pancreaticobiliary Maljunction and Gastrointestinal Tumor in Neurofibromatosis Type 1

Rie Tanaka  1 , Akinori Sekioka  1 , Shuichi Ota  1 , Tetsuo Ito  1 , Yukito Adachi  1
Affiliations
Case Reports

A Rare Case of the Coexistence of Pancreaticobiliary Maljunction and Gastrointestinal Tumor in Neurofibromatosis Type 1

Rie Tanaka et al. Cureus. .

Abstract

Neurofibromatosis type 1 (NF1) is a congenital condition characterized by "café au lait" spots and subcutaneous fibromas. There are various combined diseases, such as malignant tumors in the abdominal organs or brain tumors. Here, we present a case of a 35-year-old patient with a rare combination of NF1 with a gastrointestinal stromal tumor (GIST) and pancreaticobiliary maljunction (PBM). At the first visit, her main symptom was right upper abdominal pain. Radiological investigations revealed a common bile duct stone, submucosal tumor in the duodenum, PBM, and abnormal findings in the intrahepatic bile ducts. After the common bile duct stone was removed by endoscopic intervention, the patient underwent laparoscopic cholecystectomy, resection of the duodenal submucosal tumor, and liver biopsy. Pathological examination revealed chronic cholecystitis, GIST of the duodenum, and chronic inflammation of the intrahepatic bile ducts. This is the first case report of the rare coexistence of GIST and PBM in a patient with NF1.

Keywords: case report; gastrointestinal stromal tumor; intrahepatic bile duct; neurofibromatosis type 1; pancreaticobiliary maljunction.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Abdominal computed tomography
Abdominal computed tomography reveals a stone in the lower common bile duct and a tumor in the duodenal bulb. A: 8×9-mm-size tumor in the duodenal bulb (arrow). B: The common bile duct stone (arrow).
Figure 2
Figure 2. Magnetic resonance cholangiopancreatography
Magnetic resonance cholangiopancreatography shows diffuse stenosis and dilation of the intrahepatic and extrahepatic bile ducts (arrows).
Figure 3
Figure 3. Endoscopic retrograde cholangiopancreatography
Endoscopic retrograde cholangiopancreatography reveals the junction of the pancreatic duct and bile duct located outside the duodenal wall with a long common channel (red arrow). The yellow arrow shows the filling defect of the common bile duct consistent with the stone.
Figure 4
Figure 4. Esophagogastroduodenoscopy
Esophagogastroduodenoscopy reveals a submucosal tumor on the anterior wall of the duodenal bulb (arrow).
Figure 5
Figure 5. Laparoscopic image
The tumor on the anterior wall of the duodenal bulb is identified during the surgery (arrow). The tumor appeared to be intramural.
Figure 6
Figure 6. Histopathological findings of the gastrointestinal stromal tumor
The gastrointestinal stromal tumor is 9×8 mm in size. Immunohistochemistry shows that c-KIT(CD117) and CD34 are both positive. A: Macroscopic image of the tumor (arrow). B: Immunohistochemical c-KIT(CD117) expression. Positive cells are stained brown (arrows). C: Immunohistochemical CD34 expression. Positive cells are stained brown (arrows).
Figure 7
Figure 7. Histopathological findings of the liver
Histopathological findings of the liver show periductal fibrosis. A: Hematoxylin and Eosin staining. B: Masson’s trichrome staining. Blue staining (arrow) shows collagen accumulation.
See this image and copyright information in PMC

References

    1. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen’s disease): clinicopathological spectrum with pathogenetic considerations. Agaimy A, Vassos N, Croner RS. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484498/pdf/ijcep0005-0852.pdf. Int J Clin Exp Pathol. 2012;5:852–862. - PMC - PubMed
    1. Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature. Thavaraputta S, Graham S, Rivas Mejia AM, Lado-Abeal J. BMJ Case Rep. 2019;12:226702. - PMC - PubMed
    1. Approach to wild-type gastrointestinal stromal tumors. Kays JK, Sohn JD, Kim BJ, Goze K, Koniaris LG. Transl Gastroenterol Hepatol. 2018;3:92. - PMC - PubMed
    1. The management of metastatic GIST: current standard and investigational therapeutics. Kelly CM, Gutierrez Sainz L, Chi P. J Hematol Oncol. 2021;14:2. - PMC - PubMed
    1. Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient. Poredska K, Kunovsky L, Prochazka V, et al. Diagn Pathol. 2019;14:77. - PMC - PubMed

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