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Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature
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 g...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9753052/ https://www.ncbi.nlm.nih.gov/pubmed/36533108 http://dx.doi.org/10.3748/wjg.v28.i45.6421 |
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author | Lee, Cha Len Holter, Spring Borgida, Ayelet Dodd, Anna Ramotar, Stephanie Grant, Robert Wasson, Kristy Elimova, Elena Jang, Raymond W Moore, Malcolm Kim, Tae Kyoung Khalili, Korosh Moulton, Carol-Anne Gallinger, Steven O’Kane, Grainne M Knox, Jennifer J |
author_facet | Lee, Cha Len Holter, Spring Borgida, Ayelet Dodd, Anna Ramotar, Stephanie Grant, Robert Wasson, Kristy Elimova, Elena Jang, Raymond W Moore, Malcolm Kim, Tae Kyoung Khalili, Korosh Moulton, Carol-Anne Gallinger, Steven O’Kane, Grainne M Knox, Jennifer J |
author_sort | Lee, Cha Len |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9753052 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-97530522022-12-16 Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature Lee, Cha Len Holter, Spring Borgida, Ayelet Dodd, Anna Ramotar, Stephanie Grant, Robert Wasson, Kristy Elimova, Elena Jang, Raymond W Moore, Malcolm Kim, Tae Kyoung Khalili, Korosh Moulton, Carol-Anne Gallinger, Steven O’Kane, Grainne M Knox, Jennifer J World J Gastroenterol Case Report 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. Baishideng Publishing Group Inc 2022-12-07 2022-12-07 /pmc/articles/PMC9753052/ /pubmed/36533108 http://dx.doi.org/10.3748/wjg.v28.i45.6421 Text en ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/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/ |
spellingShingle | Case Report Lee, Cha Len Holter, Spring Borgida, Ayelet Dodd, Anna Ramotar, Stephanie Grant, Robert Wasson, Kristy Elimova, Elena Jang, Raymond W Moore, Malcolm Kim, Tae Kyoung Khalili, Korosh Moulton, Carol-Anne Gallinger, Steven O’Kane, Grainne M Knox, Jennifer J Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature |
title | Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature |
title_full | Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature |
title_fullStr | Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature |
title_full_unstemmed | Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature |
title_short | Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature |
title_sort | germline brca2 variants in advanced pancreatic acinar cell carcinoma: a case report and review of literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9753052/ https://www.ncbi.nlm.nih.gov/pubmed/36533108 http://dx.doi.org/10.3748/wjg.v28.i45.6421 |
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