Case report: olaparib use in metastatic lung adenocarcinoma with BRCA2 pathogenic variant.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-12-28 Print Date: 2022-12-01 DOI:10.1101/mcs.a006223

Jonathan Soon Jian Hao, Chan Sock Hoai, Daniel Tan Shao Weng, Joanne Ngeow, Jianbang Chiang

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Abstract

Poly (ADP-ribose) polymerase (PARP) inhibitors have been approved in malignancies associated with germline BRCA1 or BRCA2 pathogenic variants, such as breast, ovarian, prostate, and pancreatic cancer. In malignancies not associated with germline BRCA1 or BRCA2 pathogenic variants, the therapeutic relevance of PARP inhibitors is less clear. Non-small-cell lung cancer (NSCLC) is known to demonstrate somatic alterations in BRCA1 or BRCA2 gene. The current report is on a gentleman with metastatic lung adenocarcinoma with a somatic BRCA2 pathogenic variant, who was effectively treated with olaparib. Furthermore, we discuss the existing data for use of PARP inhibitors in NSCLC. This study highlights the utility of next-generation sequencing in identifying gene mutations and demonstrates how such information can be used to select targeted therapies in patients with actionable molecular alterations.

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病例报告：奥拉帕利用于带有 BRCA2 致病变体的转移性肺腺癌。

聚（ADP-核糖）聚合酶（PARP）抑制剂已被批准用于与种系 BRCA1 或 BRCA2 致病变异相关的恶性肿瘤，如乳腺癌、卵巢癌、前列腺癌和胰腺癌。对于与种系 BRCA1 或 BRCA2 致病变异无关的恶性肿瘤，PARP 抑制剂的治疗意义尚不明确。据了解，非小细胞肺癌（NSCLC）会出现 BRCA1 或 BRCA2 基因的体细胞变异。本报告介绍了一位患有转移性肺腺癌且具有体细胞 BRCA2 致病变异的患者，该患者接受了奥拉帕利的有效治疗。此外，我们还讨论了在 NSCLC 中使用 PARP 抑制剂的现有数据。本研究强调了新一代测序技术在确定基因突变方面的作用，并展示了如何利用这些信息为有可操作分子改变的患者选择靶向疗法。

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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来源期刊

Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

3.20

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0.00%

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期刊介绍： Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.

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