Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Dec 15, 2020; 12(12): 1456-1463
Published online Dec 15, 2020. doi: 10.4251/wjgo.v12.i12.1456
Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report
Mariacristina Di Marco, Riccardo Carloni, Stefania De Lorenzo, Cristina Mosconi, Andrea Palloni, Elisa Grassi, Daria Maria Filippini, Angela Dalia Ricci, Alessandro Rizzo, Alessandro Di Federico, Donatella Santini, Daniela Turchetti, Claudio Ricci, Carlo Ingaldi, Laura Alberici, Francesco Minni, Rita Golfieri, Giovanni Brandi, Riccardo Casadei
Mariacristina Di Marco, Riccardo Carloni, Andrea Palloni, Daria Maria Filippini, Angela Dalia Ricci, Alessandro Rizzo, Alessandro Di Federico, Giovanni Brandi, Department of Experimental, Diagnostic, and Specialty Medicine-DIMES, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Mariacristina Di Marco, Stefania De Lorenzo, Giovanni Brandi, Division of Oncology, Azienda Ospedaliero-Universitaria di Bologna, Bologna 40138, Italy
Cristina Mosconi, Rita Golfieri, Radiology Unit, Department of Diagnostic Medicine and Prevention, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Elisa Grassi, Medical Oncology, Ospedale Degli Infermi, Faenza 48018, Italy
Donatella Santini, Pathology Unit, Sant'Orsola-Malpighi Hospital, Bologna 40138, Italy
Daniela Turchetti, Unit of Medical Genetics, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy
Claudio Ricci, Carlo Ingaldi, Laura Alberici, Francesco Minni, Riccardo Casadei, Division of Pancreatic Surgery, Azienda Ospedaliero-Universitaria Di Bologna, Bologna 40138, Italy
Claudio Ricci, Carlo Ingaldi, Laura Alberici, Francesco Minni, Riccardo Casadei, Department of Internal Medicine and Surgery, Alma Mater Studiorum, University of Bologna, Bologna 40138, Italy
Author contributions: Di Marco M, Carloni R and De Lorenzo S reviewed the literature and contributed to manuscript drafting; Brandi G, Grassi E, Di Federico A and Palloni A were the patient’s attending physicians and contributed to manuscript drafting; Golfieri R and Mosconi C reviewed the MRI findings and selected the figures; Filippini DM, Ricci AD and Rizzo A reviewed the literature; Ricci C, Ingaldi C, Alberici L, Minni F and Casadei R were the patient’s surgeons and reviewed the literature; Santini D and Turchetti D performed pathological examinations and BRCA testing, respectively, and reviewed the literature; Di Marco M was responsible for revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Informed consent statement: The patient provided informed consent for the publication of her case.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Riccardo Carloni, MD, Doctor, Department of Experimental, Diagnostic, and Specialty Medicine-DIMES, Sant'Orsola-Malpighi Hospital, University of Bologna, Via Massarenti 9, Bologna 40138, Italy. riccardo.carloni2@studio.unibo.it
Received: October 13, 2020
Peer-review started: October 13, 2020
First decision: October 23, 2020
Revised: November 1, 2020
Accepted: November 10, 2020
Article in press: November 10, 2020
Published online: December 15, 2020
Processing time: 57 Days and 19.8 Hours
Abstract
BACKGROUND

Pancreatic mucinous cystadenocarcinoma (MCAC) is a rare malignancy with a poor prognosis when it presents metastases at diagnosis. Due to its very low incidence, there are no clear recommendations for the treatment of advanced disease. Olaparib (an oral PARP inhibitor) has been approved for the maintenance treatment of patients with metastatic pancreatic adenocarcinoma harbouring germline BRCA1/2 mutations. Herein, we report the first case of a germline BRCA1 mutated unresectable MCAC which was effectively treated with olaparib.

CASE SUMMARY

A 41-year-old woman, without personal or family history of cancer, was diagnosed with ovarian and peritoneal metastases of MCAC. She underwent 12 cycles of gemcitabine plus oxaliplatin (GEMOX) obtaining a partial response and allowing radical surgery. One year later, local recurrence was documented, and other 12 cycles of GEMOX were administered obtaining a complete response. Seven years later, another local recurrence, not amenable to surgical resection, was diagnosed. She started FOLFIRINOX (oxaliplatin, irinotecan, leucovorin and fluorouracil), obtaining a partial response after 8 cycles. Given the excellent response to platinum-based chemotherapy, BRCA testing was performed, and a BRCA1 germline mutation was detected. She was switched to maintenance olaparib due to chemotherapy-related toxicities and achieved an almost complete metabolic response, with a reduction in the diameter of the lesion, after three months of therapy.

CONCLUSION

The current case suggests the beneficial effect of olaparib in BRCA mutated MCAC. However, further studies are required.

Keywords: Mucinous cystadenocarcinoma; Pancreatic cancer; BRCA1 gene; Olaparib; Case report

Core Tip: Pancreatic mucinous cystadenocarcinoma (MCAC) is a rare malignancy with a poor prognosis when it presents metastases at diagnosis. Due to its very low incidence, there are no clear recommendations for the treatment of advanced disease. Olaparib (an oral PARP inhibitor) has remarkable curative effects in BRCA mutated pancreatic ductal adenocarcinoma, breast and ovarian cancers. However, there are few data on its efficacy in the treatment of other types of pancreatic malignancies. Herein, we report the first case of a germline BRCA1 mutated MCAC which was effectively treated with olaparib. We also provide a brief overview of the most relevant clinical features of MCAC.