一名患有胰腺癌且存在种系突变的患者对FOLFIRINOX方案产生了卓越反应。
Exceptional response to FOLFIRINOX in a patient with pancreatic cancer and a germline mutation.
作者信息
Palacio Sofia, Pollack Terri, Silva-Smith Rachel, Sussman Daniel A, Hosein Peter J
机构信息
Department of Medicine, University of Miami Miller School of Medicine and Sylvester Comprehensive Cancer Center, Miami, FL, USA.
出版信息
J Gastrointest Oncol. 2018 Aug;9(4):E19-E22. doi: 10.21037/jgo.2018.03.11.
Abstract
Pancreatic cancer is projected to become the second leading cause of cancer death in the United States by 2030. Deleterious germline mutations can contribute to pancreatic cancer susceptibility. Herein we report a case of a patient with metastatic pancreatic adenocarcinoma to the lung and liver who was found to have a deleterious germline mutation in who had a remarkable response to chemotherapy with FOLFIRINOX, a platinum-containing regimen.
摘要
预计到2030年，胰腺癌将成为美国癌症死亡的第二大主要原因。有害的种系突变可能导致胰腺癌易感性。在此，我们报告一例转移性胰腺腺癌肺和肝转移患者，该患者被发现存在有害的种系突变，对含铂方案FOLFIRINOX化疗有显著反应。
相似文献
1
Exceptional response to FOLFIRINOX in a patient with pancreatic cancer and a germline mutation.
J Gastrointest Oncol. 2018 Aug;9(4):E19-E22. doi: 10.21037/jgo.2018.03.11.
2
Dramatic response of FOLFIRINOX regimen in a collision pancreatic adenocarcinoma patient with a germline BRCA2 mutation: a case report.
Jpn J Clin Oncol. 2019 Dec 18;49(11):1049-1054. doi: 10.1093/jjco/hyz141.
3
Complete Response to Chemotherapy in Metastatic Pancreatic Carcinoma Associated with Double Heterozygous Germline Mutation in BRCA2 and CHEK2 Genes - a Case Report.
Klin Onkol. 2020 Spring;33(3):220-225. doi: 10.14735/amko2020220.
4
Excellent Response to Olaparib in a Patient with Metastatic Pancreatic Adenocarcinoma with Germline Mutation after Progression on FOLFIRINOX: Case Report and Literature Review.
Case Rep Oncol. 2020 Jul 29;13(2):904-910. doi: 10.1159/000508533. eCollection 2020 May-Aug.
5
Increased Rate of Complete Pathologic Response After Neoadjuvant FOLFIRINOX for BRCA Mutation Carriers with Borderline Resectable Pancreatic Cancer.
Ann Surg Oncol. 2020 Oct;27(10):3963-3970. doi: 10.1245/s10434-020-08469-8. Epub 2020 Apr 20.
6
DNA damage repair deficiency as a predictive biomarker for FOLFIRINOX efficacy in metastatic pancreatic cancer.
J Gastrointest Oncol. 2019 Dec;10(6):1133-1139. doi: 10.21037/jgo.2019.09.12.
7
Complete Pathological Response to Platinum-Based Neoadjuvant Chemotherapy in BRCA2-Associated Locally Advanced Pancreatic Cancer: A Case Report and Literature Review.
Cureus. 2023 Aug 10;15(8):e43261. doi: 10.7759/cureus.43261. eCollection 2023 Aug.
8
Neoadjuvant FOLFIRINOX versus upfront surgery for resectable pancreatic head cancer (NORPACT-1): a multicentre, randomised, phase 2 trial.
Lancet Gastroenterol Hepatol. 2024 Mar;9(3):205-217. doi: 10.1016/S2468-1253(23)00405-3. Epub 2024 Jan 15.
9
BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients.
Cancers (Basel). 2022 Jan 4;14(1):236. doi: 10.3390/cancers14010236.
10
Clinical characterization of patients with gBRCA1/2 mutation-positive unresectable pancreatic cancer: a multicenter prospective study.
Jpn J Clin Oncol. 2024 Jan 7;54(1):47-53. doi: 10.1093/jjco/hyad131.
引用本文的文献
1
DNA damage repair deficiency as a predictive biomarker for FOLFIRINOX efficacy in metastatic pancreatic cancer.
J Gastrointest Oncol. 2019 Dec;10(6):1133-1139. doi: 10.21037/jgo.2019.09.12.
本文引用的文献
1
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
J Clin Oncol. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2.
2
Bladder cancer: Mutations in DNA-damage-repair pathways confer platinum sensitivity.
Nat Rev Urol. 2017 Apr;14(4):197. doi: 10.1038/nrurol.2017.22. Epub 2017 Feb 14.
3
Is it time to split strategies to treat homologous recombinant deficiency in pancreas cancer?
J Gastrointest Oncol. 2016 Oct;7(5):738-749. doi: 10.21037/jgo.2016.05.04.
4
Interplay between Fanconi anemia and homologous recombination pathways in genome integrity.
EMBO J. 2016 May 2;35(9):909-23. doi: 10.15252/embj.201693860. Epub 2016 Apr 1.
5
Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6.
6
RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
Oral Oncol. 2014 Mar;50(3):196-9. doi: 10.1016/j.oraloncology.2013.11.007. Epub 2013 Dec 6.
7
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
Clin Cancer Res. 2014 Feb 1;20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. Epub 2013 Nov 15.
8
Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway.
Genes Dev. 2012 Jul 1;26(13):1393-408. doi: 10.1101/gad.195248.112.
9
Germline RAD51C mutations in ovarian cancer susceptibility.
Clin Genet. 2013 Apr;83(4):332-6. doi: 10.1111/j.1399-0004.2012.01917.x. Epub 2012 Jul 23.
10
BRCA1/2 mutations and expression: response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer.
Gynecol Oncol. 2012 Jun;125(3):677-82. doi: 10.1016/j.ygyno.2012.03.006. Epub 2012 Mar 8.
Zotero 插件