Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Dec 7, 2022; 28(45): 6421-6432
Published online Dec 7, 2022. doi: 10.3748/wjg.v28.i45.6421
Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature
Cha Len Lee, Spring Holter, Ayelet Borgida, Anna Dodd, Stephanie Ramotar, Robert Grant, Kristy Wasson, Elena Elimova, Raymond W Jang, Malcolm Moore, Tae Kyoung Kim, Korosh Khalili, Carol-Anne Moulton, Steven Gallinger, Grainne M O’Kane, Jennifer J Knox
Cha Len Lee, Spring Holter, Ayelet Borgida, Anna Dodd, Stephanie Ramotar, Robert Grant, Kristy Wasson, Elena Elimova, Raymond W Jang, Malcolm Moore, Grainne M O’Kane, Jennifer J Knox, Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada
Tae Kyoung Kim, Korosh Khalili, Department of Medical Imaging, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada
Carol-Anne Moulton, Steven Gallinger, Hepatobiliary/Pancreatic Surgical Program, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada
Author contributions: Lee CL contributed to the data investigation, writing, and editing of the original draft; Holter S participated in the genomics data curation and revision of the final manuscript; Borgida A, Dodd A and Ramotar S involved in the data acquisition and curation; Kim TY and Khalili K participated in the radiological investigation; Grant R, Elimova E, Wasson K, Jang RW, Moore M, and Moulton CA read and approved the final manuscript; Gallinger S and O’Kane GM reviewed and edited the manuscript; Knox JJ supervised the project and final manuscript revision.
Informed consent statement: Informed consent is obtained from all participants. Written informed consent is obtained from the patient to publish the case report and 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: Cha Len Lee, MBChB, MD, Doctor, Research Fellow, Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, 7th Floor, 700 University Avenue, University Health Network, Toronto M5G1Z5, ON, Canada. chalen.lee@uhn.ca
Received: August 14, 2022
Peer-review started: August 14, 2022
First decision: October 20, 2022
Revised: November 2, 2022
Accepted: November 16, 2022
Article in press: November 16, 2022
Published online: December 7, 2022
Processing time: 109 Days and 21.5 Hours
Abstract
BACKGROUND

Pancreatic acinar cell carcinoma (PACC) is a rare tumor. Up to 45% of PACCs have alterations in the DNA damage repair pathway and 23% harbor rearrangements in the BRAF or RAF1 genes. We present a PACC case with a germline BRCA2 likely pathogenic variant (LPV) to highlight the impact of genomic testing on treatment decisions and patient outcomes. In our larger case series, we provide clinic-based information on additional 10 PACC patients treated in our center.

CASE SUMMARY

A 70-year-old male was diagnosed with advanced PACC. At presentation, he was cachectic with severe arthralgia despite prednisolone and a skin rash that was later confirmed to be panniculitis. He was treated with modified FOLFIRINOX (mFFX) with the knowledge of the germline BRCA2 LPV. Following 11 cycles of mFFX, a computed tomography (CT) scan demonstrated significant tumor response in the pancreatic primary and hepatic metastases, totaling 70% from baseline as per Response Evaluation Criteria in Solid Tumors. Resolution of the skin panniculitis was also noted. We identified two additional PACCs with druggable targets in our case series. Our data contribute to practical evidence for the value of germline and somatic profiling in the management of rare diseases like PACC.

CONCLUSION

This patient and others in our larger case series highlight the importance of genomic testing in PACC with potential utility in personalized treatment.

Keywords: Pancreatic acinar carcinoma; BRCA; Polyadenosine diphosphate-ribose polymerase inhibitor; Case report

Core Tip: Pancreatic acinar cell carcinoma (PACC) is a rare tumor with distinct molecular features and a relatively high proportion of targetable mutations. In this article, we describe a case report of PACC with a germline BRCA2 likely pathogenic variant, with a series of 10 additional cases, along with an in-depth look at the patients’ therapeutic details. We aim to outline the advantages of genomic analysis and its outcome regarding treatment selection in this tumor type.