Successful Treatment of Unresectable BRCA1 L63*-Mutated Basal Cell Carcinoma Invading the Parietal Bone with Cisplatin and Fluorouracil: A Case Report.

IF 0.7 Q4 ONCOLOGY

Case Reports in Oncology Pub Date : 2024-09-20 eCollection Date: 2024-01-01 DOI:10.1159/000541160

Saaya Yoshida-Akai, Taku Fujimura, Ryo Amagai, Yumi Kambayashi, Akira Hashimoto, Hitoshi Terui, Kenta Oka, Manami Watanabe-Takahashi, Emi Yamazaki, Kota Ohuchi, Yoshihide Asano

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Abstract

Introduction: Basal cell carcinoma (BCC) is a common skin cancer that rarely metastasizes but can deeply infiltrate local tissues. The small number of unresectable BCC cases makes it difficult to conduct clinical trials, resulting in delays in the development of effective drugs for BCC. Cancer gene panel testing has led to an increasing number of new treatment proposals for patients with solid tumors for whom no standard treatment is available.

Case presentation: We described a case of unresectable BRCA1 L63*-mutated BCC invading the parietal bone, which was successfully treated with cisplatin and fluorouracil.

Conclusion: Our present case suggests that comprehensive mutation analysis by gene panel testing is important in advanced BCC because genes other than those involved in the hedgehog signaling pathway can be driver genes.

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用顺铂和氟尿嘧啶成功治疗侵犯顶骨的无法切除的 BRCA1 L63* 突变基底细胞癌：病例报告。

导言：基底细胞癌（BCC）是一种常见的皮肤癌，很少转移，但可深度浸润局部组织。由于无法切除的基底细胞癌病例较少，因此难以开展临床试验，导致治疗基底细胞癌的有效药物迟迟未能开发出来。癌症基因面板检测为没有标准治疗方法的实体瘤患者带来了越来越多的新治疗方案：我们描述了一例无法切除的 BRCA1 L63* 突变 BCC 病例，该病侵犯顶骨，顺铂和氟尿嘧啶成功治疗了该病：我们的病例表明，通过基因组检测进行全面突变分析对于晚期 BCC 非常重要，因为除参与刺猬信号通路的基因外，其他基因也可能是驱动基因。

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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