Emergence of PALB2 Reversion Mutations as a Mechanism of Resistance to Niraparib in Breast Cancer: A Case Report.

IF 4.3 2区医学 Q1 Medicine

Cancer Science Pub Date : 2025-10-06 DOI:10.1111/cas.70210

Maako Kawamura, Hiroshi Tada, Hidekazu Shirota, Miki Dobashi, Noriko Takenaga, Hiroyuki Yasojima, Narumi Harada-Shoji, Keigo Komine, Kenichi Nakamura, Minoru Miyashita, Hisato Kawakami

引用次数: 0

Abstract

This case study describes the clinical course of a 39-year-old woman with metastatic breast cancer harboring a germline PALB2 mutation who was treated with a PARP inhibitor. She initially demonstrated a clinical benefit with reduced tumor markers and favorable imaging findings. However, disease progression occurred after eight months. Liquid biopsy-based genomic profiling identified three PALB2 reversion mutations that restored homologous recombination, leading to treatment resistance. The case illustrates both the therapeutic potential of PARP inhibitors in PALB2-mutated cancers and the emergence of resistance. It emphasizes the importance of liquid biopsy-based genomic profiling for understanding tumor evolution and guiding treatment strategies.

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PALB2逆转突变的出现作为乳腺癌耐拉帕尼的机制：一个病例报告。

本病例研究描述了一名患有转移性乳腺癌的39岁女性的临床过程，该女性携带种系PALB2突变，接受PARP抑制剂治疗。她最初表现出临床效益，肿瘤标志物降低，影像学结果良好。然而，疾病在8个月后发生进展。基于液体活检的基因组分析鉴定了三个PALB2逆转突变，这些突变恢复了同源重组，导致了治疗耐药性。该病例说明了PARP抑制剂在palb2突变癌症中的治疗潜力和耐药性的出现。它强调了基于液体活检的基因组分析对理解肿瘤进化和指导治疗策略的重要性。

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

Cancer Science ONCOLOGY-

CiteScore

9.90

自引率

3.50%

发文量

406

审稿时长

17 weeks

期刊介绍： Cancer Science (formerly Japanese Journal of Cancer Research) is a monthly publication of the Japanese Cancer Association. First published in 1907, the Journal continues to publish original articles, editorials, and letters to the editor, describing original research in the fields of basic, translational and clinical cancer research. The Journal also accepts reports and case reports. Cancer Science aims to present highly significant and timely findings that have a significant clinical impact on oncologists or that may alter the disease concept of a tumor. The Journal will not publish case reports that describe a rare tumor or condition without new findings to be added to previous reports; combination of different tumors without new suggestive findings for oncological research; remarkable effect of already known treatments without suggestive data to explain the exceptional result. Review articles may also be published.