Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Nov 15, 2022; 14(11): 2253-2265
Published online Nov 15, 2022. doi: 10.4251/wjgo.v14.i11.2253
A rare synchrony of adenocarcinoma of the ampulla with an ileal gastrointestinal stromal tumor: A case report
Venkata Vinod Kumar Matli, Gazi B Zibari, Gregory Wellman, Poornima Ramadas, Sudha Pandit, James Morris
Venkata Vinod Kumar Matli, Department of Internal Medicine, Christus Highland Medical Center, Shreveport, LA 71106, United States
Gazi B Zibari, Division of Hepatobiliary Surgery, Willis-Knighton Health System, Shreveport, LA 711103, United States
Gregory Wellman, Department of Gastrointestinal and Liver Pathology, Christus Highland Medical Center, Shreveport, LA 71105, United States
Poornima Ramadas, Division of Hematology and Oncology, Louisiana State University Health Sciences Center, Shreveport, LA 71103, United States
Sudha Pandit, James Morris, Division of Gastroenterology and Hepatology, Louisiana State University Health Sciences Center, Shreveport, LA 71103, United States
Author contributions: Matli VVK obtained all the required data and drafted the article after literature review; Wellman G was a gastrointestinal and liver pathologist, reviewed the slides and revised the article; Ramadas P, medical oncologist, revised the article; Pandit S, gastroenterologist, reviewed the literature and revised the article; Zibari GB, hepatobiliary surgeon and Morris J, gastroenterologist and hepatologist, critically revised the article and approved the final version of the article.
Informed consent statement: Written informed consent was obtained from the patient for the publication of this article and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the care checklist (2016), and the manuscript was prepared and revised according to the care checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Venkata Vinod Kumar Matli, MD, Attending Doctor, Department of Internal Medicine, Christus Highland Medical Center, 1455 E Bert Kouns Industrial Loop Christus Highland Medical Center, Shreveport, LA 71106, United States. vmatli@soundphysicians.com
Received: July 11, 2022
Peer-review started: July 11, 2022
First decision: August 19, 2022
Revised: September 15, 2022
Accepted: October 2, 2022
Article in press: October 2, 2022
Published online: November 15, 2022
Processing time: 127 Days and 7.5 Hours
Abstract
BACKGROUND

This is a unique case of a patient who was found to have two extremely rare primary malignancies synchronously, i.e., an ampullary adenocarcinoma arising from a high-grade dysplastic tubulovillous adenoma of the ampulla of Vater (TVAoA) with a high-grade ileal gastrointestinal stromal tumor (GIST). Based on a literature review and to the best of our knowledge, this is the first report of this synchronicity. Primary ampullary tumors are extremely rare, with an incidence of four cases per million population, which is approximately 0.0004%. Distal duodenal polyps are uncommon and have a preponderance of occurring around the ampulla of Vater. An adenoma of the ampulla ( AoA) may occur sporadically or with a familial inheritance pattern, as in hereditary genetic polyposis syndrome such as familial adenomatous polyposis syndrome (FAPS). We report a case of a 77-year-old male who was admitted for painless obstructive jaundice with a 40-pound weight loss over a two-month period and who was subsequently diagnosed with two extremely rare primary malignancies, i.e., an adenocarcinoma of the ampulla arising from a high-grade TVAoA and a high-grade ileal GIST found synchronously.

CASE SUMMARY

A 77-year-old male was admitted for generalized weakness with an associated weight loss of 40 pounds in the previous two months and was noted to have painless obstructive jaundice. The physical examination was benign except for bilateral scleral and palmar icterus. Lab results were significant for an obstructive pattern on liver enzymes. Serum lipase and carbohydrate antigen-19-9 levels were elevated. Computed tomography (CT) of the abdomen and pelvis and magnetic resonance cholangiopancreatography were consistent with a polypoid mass at the level of the common bile duct (CBD) and the ampulla of Vater with CBD dilatation. The same lesions were visualized with endoscopic retrograde cholangiopancreatography. Histopathology of endoscopic forceps biopsy showed TVAoA. Histopathology of the surgical specimen of the resected ampulla showed an adenocarcinoma arising from the TVAoA. Abdominal and pelvic CT also showed a coexisting heterogeneously enhancing, lobulated mass in the posterior pelvis originating from the ileum. The patient underwent ampullectomy and resection of the mass and ileo-ileal side-to-side anastomosis followed by chemoradiation. Histopathology of the resected mass confirmed it as a high-grade, spindle cell GIST. The patient is currently on imatinib, and a recent follow-up positron emission tomography (PET) scan showed a complete metabolic response.

CONCLUSION

This case is distinctive because the patient was diagnosed with two synchronous and extremely rare high-grade primary malignancies, i.e., an ampullary adenocarcinoma arising from a high-grade dysplastic TVAoA with a high-grade ileal GIST. An AoA can occur sporadically and in a familial inheritance pattern in the setting of FAPS. We emphasize screening and surveillance colonoscopy when one encounters an AoA in upper endoscopy to check for FAPS. An AoA is a premalignant lesion, particularly in the setting of FAPS that carries a high risk of metamorphism to an ampullary adenocarcinoma. Final diagnosis should be based on a histopathologic study of the surgically resected ampullary specimen and not on endoscopic forceps biopsy. The diagnosis of AoA is usually incidental on upper endoscopy. However, patients can present with constitutional symptoms such as significant weight loss and obstructive symptoms such as painless jaundice, both of which occurred in our patient. Patient underwent ampullectomy with clear margins and ileal GIST resection. Patient is currently on imatinib adjuvant therapy and showed complete metabolic response on follow up PET scan.

Keywords: Tubulovillous adenoma of the ampulla of Vater; Ampullary adenocarcinoma; Gastrointestinal stromal tumor; Ampullary polyp; Small bowel mesenchymal tumor; Case report

Core Tip: This case is distinctive because the patient was diagnosed with two synchronous and extremely rare high-grade primary malignancies, i.e., an ampullary adenocarcinoma arising from a high-grade dysplastic tubulovillous adenoma of the ampulla of Vater (TVAoA) with a high-grade ileal gastrointestinal stromal tumor (GIST). Based on a literature review, this is the first report of an ampullary adenocarcinoma coexisting with an ileal GIST. AoA may occur sporadically or in a familial inheritance pattern, as in the setting of familial adenomatous polyposis syndrome (FAPS). We emphasize the need for screening and surveillance colonoscopy when one encounters an AoA in upper endoscopy to check for FAPS. TVAoA is a premalignant lesion, particularly in the setting of FAPS, and carries a high risk for metamorphism to an ampullary adenocarcinoma.