Yoshida-Akai Saaya, Fujimura Taku, Amagai Ryo, Kambayashi Yumi, Hashimoto Akira, Terui Hitoshi, Oka Kenta, Watanabe-Takahashi Manami, Yamazaki Emi, Ohuchi Kota, Asano Yoshihide
Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Department of Medical Oncology, Tohoku University Hospital, Sendai, Japan.
Case Rep Oncol. 2024 Sep 20;17(1):1050-1054. doi: 10.1159/000541160. eCollection 2024 Jan-Dec.
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.
We described a case of unresectable L63*-mutated BCC invading the parietal bone, which was successfully treated with cisplatin and fluorouracil.
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.
基底细胞癌(BCC)是一种常见的皮肤癌,很少发生转移,但可深度浸润局部组织。不可切除的基底细胞癌病例数量较少,这使得开展临床试验变得困难,导致针对基底细胞癌的有效药物研发滞后。癌症基因检测 panel 已为没有标准治疗方案的实体瘤患者带来了越来越多的新治疗方案。
我们描述了一例不可切除的、L63* 突变的基底细胞癌侵犯顶骨的病例,该病例通过顺铂和氟尿嘧啶成功治愈。
我们目前的病例表明,对于晚期基底细胞癌,通过基因检测 panel 进行全面的突变分析很重要,因为除了参与刺猬信号通路的基因外,其他基因也可能是驱动基因。