Published online Dec 7, 2022. doi: 10.3748/wjg.v28.i45.6421
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
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 rearran
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.
This patient and others in our larger case series highlight the importance of genomic testing in PACC with potential utility in personalized treatment.
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.