The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.
BRCA
Genetic testing
PARP inhibitors
Pancreatic acinar cell carcinoma
Journal
Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211
Informations de publication
Date de publication:
11 May 2024
11 May 2024
Historique:
received:
26
10
2023
accepted:
13
04
2024
medline:
11
5
2024
pubmed:
11
5
2024
entrez:
11
5
2024
Statut:
aheadofprint
Résumé
A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic acinar cell carcinoma (PACC) treated by remnant pancreatectomy and adjuvant chemotherapy. Thirteen months after surgery, multiple liver metastases developed and FOLFOX chemotherapy was initiated. Based on the PACC diagnosis and a positive family history for breast and ovarian cancer genetic testing was performed which revealed a pathogenic germline BRCA2 variant (c.8629G > T, p.Glu2877Ter). Olaparib therapy was initiated and the metastases responded well (partial response). PACC is a BRCA2-associated cancer which may respond well to PARP inhibitors.
Identifiants
pubmed: 38733420
doi: 10.1007/s10689-024-00390-3
pii: 10.1007/s10689-024-00390-3
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : JSPS KAKENHI
ID : 19K19372
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Nature B.V.
Références
Wood LD, Klimstra DS (2014) Pathology and genetics of pancreatic neoplasms with acinar differentiation. Semin Diagn Pathol 31:491–497
doi: 10.1053/j.semdp.2014.08.003
pubmed: 25441307
pmcid: 4316670
Calimano-Ramirez LF, Daoud T, Gopireddy DR et al (2022) Pancreatic acinar cell carcinoma: a comprehensive review. World J Gastroenterol 28:5827–5844
doi: 10.3748/wjg.v28.i40.5827
pubmed: 36353206
pmcid: 9639656
Matsubayashi H, Todaka A, Kawakami T et al (2023) Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients. J Hum Genet 68:81–86
doi: 10.1038/s10038-022-01097-y
pubmed: 36482120
Mizukami K, Iwasaki Y, Kawakami E et al (2020) Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes. EBioMedicine 60:103033
doi: 10.1016/j.ebiom.2020.103033
pubmed: 32980694
pmcid: 7519363
Furukawa T, Sakamoto H, Takeuchi S et al (2015) Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas. Sci Rep 5:8829
doi: 10.1038/srep08829
pubmed: 25743105
pmcid: 4351513
Lee CL, Holter S, Borgida A et al (2022) Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: a case report and review of literature. World J Gastroenterol 28:6421–6432
doi: 10.3748/wjg.v28.i45.6421
pubmed: 36533108
pmcid: 9753052
Mandelker D, Marra A, Zheng-Lin B et al (2023) Genomic profiling reveals germline predisposition and homologous recombination deficiency in pancreatic acinar cell carcinoma. J Clin Oncol 41:5151–5162
doi: 10.1200/JCO.23.00561
pubmed: 37607324
Lelong M, Raoul JL, Touchefeu Y et al (2022) Prolonged response on olaparib maintenance in metastatic pancreatic acinar cell carcinoma associated with a germline BRCA 2 mutation, revealed by severe panniculitis. Clin Case Rep 10:e6718
doi: 10.1002/ccr3.6718
pubmed: 36523391
pmcid: 9744715
Li M, Mou Y, Hou S et al (2018) Response of germline BRCA2-mutated advanced pancreatic acinar cell carcinoma to olaparib: a case report. Medicine (Baltimore) 97:e13113
doi: 10.1097/MD.0000000000013113
pubmed: 30407325
Xu JY, Guan WL, Lu SX et al (2022) Optimizing chemotherapy of pancreatic acinar cell carcinoma: our experiences and pooled analysis of literature. Clin Med Insights Oncol 16:11795549221090186
doi: 10.1177/11795549221090186
pubmed: 35509769
pmcid: 9058357
Takahashi H, Ikeda M, Shiba S et al (2021) Multicenter retrospective analysis of chemotherapy for advanced pancreatic acinar cell carcinoma: potential efficacy of platinum- and irinotecan-containing regimens. Pancreas 50:77–82
doi: 10.1097/MPA.0000000000001718
pubmed: 33370026
Eisenhauer EA, Therasse P, Bogaerts J et al (2009) New response evaluation criteria in solid tumours: revised RECIST guideline (version 1.1). Eur J Cancer 45:228–47
Robson M, Im SA, Senkus E et al (2017) Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med 377:523–533
doi: 10.1056/NEJMoa1706450
pubmed: 28578601
Mirza MR, Monk BJ, Herrstedt J et al (2016) Niraparib maintenance therapy in platinum-sensitive, recurrent ovarian cancer. N Engl J Med 375:2154–2164
doi: 10.1056/NEJMoa1611310
pubmed: 27717299
Golan T, Hammel P, Reni M et al (2019) Maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer. N Engl J Med 381:317–327
doi: 10.1056/NEJMoa1903387
pubmed: 31157963
pmcid: 6810605
Sunami T, Yamada A, Kondo T et al (2022) Exceptional response of pancreatic acinar cell carcinoma and bile duct cancer to platinum-based chemotherapy in a family with a germline BRCA2 variant. Pancreas 51:1258–1262
doi: 10.1097/MPA.0000000000002150
pubmed: 37078954
Okusaka T, Nakamura M, Yoshida M et al (2023) Clinical practice guidelines for pancreatic cancer 2022 from the japan pancreas society: a synopsis. Int J Clin Oncol 28:493–511
doi: 10.1007/s10147-023-02317-x
pubmed: 36920680
pmcid: 10066137
Golan T, O’Kane GM, Denroche RE et al (2021) Genomic features and classification of homologous recombination deficient pancreatic ductal adenocarcinoma. Gastroenterology 160(2119–2132):e9
Florou V, Elliott A, Bailey MH et al (2023) Comparative genomic analysis of pancreatic acinar cell carcinoma (PACC) and pancreatic ductal adenocarcinoma (PDAC) unveils new actionable genomic aberrations in PACC. Clin Cancer Res 29:3408–3417
doi: 10.1158/1078-0432.CCR-22-3724
pubmed: 37266563
Dreikhausen L, Schulte N, Belle S et al (2021) Pancreatic acinar cell carcinoma with germline BRCA2 mutation and severe pancreatic panniculitis: a case report. Visc Med 37:447–450
doi: 10.1159/000515267
pubmed: 34722729
pmcid: 8543339
Okawa Y, Iwasaki Y, Johnson TA et al (2023) Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer. J Hepatol 78:333–342
doi: 10.1016/j.jhep.2022.09.025
pubmed: 36243179
Ueki A, Yoshida R, Kosaka T et al (2023) Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan. J Hum Genet 68:517–526
doi: 10.1038/s10038-023-01153-1
pubmed: 37088789
Momozawa Y, Sasai R, Usui Y et al (2022) Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants. JAMA Oncol 8:871–878
doi: 10.1001/jamaoncol.2022.0476
pubmed: 35420638
pmcid: 9011177