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BRCA2 种系突变的胰腺腺泡细胞癌伴改良 FOLFIRINOX 方案持续获得完全缓解

A Somatic BRCA2-Mutated Pancreatic Adenocarcinoma With Sustained Exceptional Response to Modified FOLFIRINOX.

机构信息

Weill Cornell Medical College, New York, NY, USA.

Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

出版信息

Oncologist. 2024 Apr 4;29(4):350-355. doi: 10.1093/oncolo/oyad315.

Abstract

Homologous recombination repair (HRR) pathway deficiency opens multiple therapeutic avenues within pancreatic cancer. Patients with HRR deficiency-associated gene mutations such as BRCA1, BRCA2, and PALB2 are more susceptible to platinum-based chemotherapies and in those with somatic BRCA mutations, PARP inhibitor therapy prolongs progression-free survival. The case discussed herein illustrates the therapeutic opportunities offered through the identification of HRR deficiency in pancreatic cancer, as well as the challenges associated with treatment and prevention of central nervous system metastases in long-term survivors of pancreatic cancer.

摘要

同源重组修复(HRR)途径缺陷为胰腺癌开辟了多种治疗途径。BRCA1、BRCA2 和 PALB2 等 HRR 缺陷相关基因突变的患者对铂类化疗药物更为敏感,而具有体细胞 BRCA 突变的患者,PARP 抑制剂治疗可延长无进展生存期。本文讨论的病例说明了在胰腺癌中鉴定出 HRR 缺陷所带来的治疗机会,以及在胰腺癌长期幸存者中预防和治疗中枢神经系统转移所面临的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0134/10994267/2afda361d2d1/oyad315_fig1.jpg

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