It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer.

Pub Date : 2023-01-01 DOI:10.1155/2023/8751205

Patsy W P Lee, Scott W Strum, Elena Tsvetkova

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Abstract

Background: We describe a case report of a 67-year-old male with PDAC who experienced an exceptional survival outcome during systemic therapy and its implications in precision medicine. We hypothesize that his outcomes are attributable, in part, to a germline BRCA2 deletion and somatic GNAS substitution.

Methods: Retrospective single-patient chart review was performed at the London Regional Cancer Program, as well as a structured literature search spanning all years in PubMed of BRCA and GNAS mutations in pancreatic cancer.

Results: The case described herein represents a 67-year-old male who survived over 27 months after third-line treatment with gemcitabine, docetaxel, and capecitabine (GTX) chemotherapy for metastatic PDAC after progression on gemcitabine and Abraxane and then on FOLFIRINOX. His survival far exceeded the median overall survival metrics. Genetic testing revealed a pathogenic heterozygous germline BRCA2 6643delT p.(Tyr2215Thrfs^∗14) frameshift mutation and somatic GNAS 2531G > A p.(Arg844His) mutation.

Conclusions: This case highlights the urgent need to expand our knowledge of cancer biology to advance personalized cancer treatment and therapy development.

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这一切都在基因:一个67岁男性转移性胰腺癌的意外生存故事。

背景:我们描述了一个病例报告，67岁的男性PDAC患者在全身治疗期间经历了一个特殊的生存结果及其在精准医学中的意义。我们假设他的结果部分归因于种系BRCA2缺失和体细胞GNAS替代。方法:在伦敦地区癌症项目中进行回顾性的单患者图表回顾，并在PubMed中对胰腺癌中BRCA和GNAS突变的所有年份进行结构化的文献检索。结果:本文描述的病例是一名67岁的男性，在接受吉西他滨、多西他赛和卡培他滨(GTX)三线化疗治疗转移性PDAC后，在吉西他滨和Abraxane和FOLFIRINOX的进展后，存活了27个多月。他的生存远远超过了总体生存指标的中位数。基因检测发现一种致病性杂合种系BRCA2 6643delT p.(Tyr2215Thrfs * 14)移码突变和体细胞GNAS 2531G > a p.(Arg844His)突变。结论:该病例强调了迫切需要扩大我们的癌症生物学知识，以推进个性化癌症治疗和疗法的发展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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