Malignant Transformation of Heterotopic Pancreatic Tissue in a Patient with BRCA2 Mutation

Nicholette Goh,Aung Myint Oo,Abdul Kareem Saleem Ahmed,Khoon Leong Chuah,Koura Aaryan Nath,Sanghvi Kaushal Amitbhai,Danson Xue Wei Yeo

doi:10.3390/gastroent12010002

Nicholette Goh, Aung Myint Oo + Show 5 more

Open Access

https://doi.org/10.3390/gastroent12010002

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Journal: Gastroenterology Insights	Publication Date: Jan 19, 2021
Citations: 4	License type: CC BY 4.0

Affiliation: Tan Tock Seng Hospital

Abstract

Background: Malignant transformation of heterotopic pancreatic tissue is a rare entity with only several case reports published in the scientific literature. Adjuvant chemotherapy following oncological resection for lesions with nodal metastasis has not been well described and there are no guidelines available to guide the management of these patients. Case Presentation: We present a case of gastric heterotopic pancreatic carcinoma with nodal metastasis in a young patient with breast cancer gene (BRCA) 2 mutation. He had undergone a laparoscopic wedge resection for a gastric lesion initially thought to be a gastrointestinal stroma tumor. Given the involvement of the wedge resection margins, the patient underwent a distal gastrectomy with oncological lymph nodal clearance. One out of the 33 harvested lymph nodes harboured micrometastasis while the main gastrectomy specimen did not have any residual malignancy. Following the histological diagnosis, he received an adjuvant chemotherapy regime akin to that prescribed for locally advanced pancreatic adenocarcinoma with good response. This is, to our knowledge, also the first such case report in a patient with BRCA2 mutation. Conclusions: Pre-operative diagnostic confirmation is challenging and endoscopic procedures pose significant false negatives. Reports of nodal metastasis following oncological resection are limited and there are no guidelines regarding adjuvant therapies. We would recommend a chemotherapy regimen similar to that for primary locally advanced pancreatic carcinoma in patients found to have nodal metastasis.

Highlights

Heterotopic pancreatic tissue can be found in various locations of the gastrointestinal tract and malignant transformation of this tissue is exceedingly rare with only a few documented cases in scientific literature
Case Report We present a case of a 33-year-old Chinese male initially presenting with dyspepsia for which an oesophagoduodenoscopy was performed
The adjuvant chemotherapy regime was akin to that prescribed for locally advanced pancreatic adenocarcinoma, for which in the recent PRODIGE 4/ACCORD 11 randomized trials, a four-drug regimen called FOLFIRINOX demonstrated to prolong overall survival compared to conventional gemcitabine monotherapy [24]

Summary

Introduction

Heterotopic pancreatic tissue can be found in various locations of the gastrointestinal tract and malignant transformation of this tissue is exceedingly rare with only a few documented cases in scientific literature. The authors present a young male patient with gastric heterotopic pancreatic carcinoma with nodal metastasis who was subsequently detected to have the breast cancer gene (BRCA) 2 mutation. He had good response to adjuvant chemotherapy following oncological resection. A discussion regarding hereditary cancer syndromes was held with the patient and he was offered genetic testing consisting of the following genes: APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A (p14ARF), CDKN2A (p16INK4a), EPCAM, MEN1, MLH1, MSH2, MSH3, MSH6, NF1, PALB2, PMS2, SMAD4, STK11, TP53, TSC1, TSC2, VHL This returned as positive for a pathogenic variant in the BRCA2 gene, whereby c.7007 + 1G > C (splice donor) was reported. The patient will continue to be closely followed up for other BRCA2-related malignancies like breast and prostatic cancer

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