Morita Ryuichi, Sugeta Seiya, Yoshida Juichiro, Ueda Tomohiro, Hara Tasuku, Morimoto Yasutaka, Shibuya Akiko, Ohno Tomoyuki, Nakajima Tomoki, Fuji Nobuaki, Konishi Eiichi, Yoshida Norimasa
Department of Gastroenterology and Hepatology, Kyoto Saiseikai Hospital, Japan.
Department of Gastroenterology and Hepatology, Japanese Red Cross Society Kyoto Daiichi Hospital, Japan.
Intern Med. 2025 May 1;64(9):1350-1354. doi: 10.2169/internalmedicine.4289-24. Epub 2024 Oct 11.
Primary neuroendocrine carcinoma (NEC) of the anal canal is a rare, highly malignant tumor with a poor prognosis. Despite the standard first-line treatment with etoposide or irinotecan combined with cisplatin, effective second-line therapies are lacking. In 2019, Japan approved cancer genome profiling (CGP) tests for solid tumors to enhance genomic understanding. We present the case of a 79-year-old woman with NEC of the anal canal, treated with etoposide, carboplatin, and amrubicin. As Post-standard therapy, CGP suggested pemigatinib, a tyrosine kinase inhibitor; however, the patient died before receiving it. This case highlights the potential of personalized medicine to improve outcomes in such cases.
肛管原发性神经内分泌癌(NEC)是一种罕见的高恶性肿瘤,预后较差。尽管依托泊苷或伊立替康联合顺铂是标准的一线治疗方案,但缺乏有效的二线治疗方法。2019年,日本批准了针对实体瘤的癌症基因组分析(CGP)检测,以加强对基因组的了解。我们报告了一例79岁患有肛管NEC的女性病例,她接受了依托泊苷、卡铂和氨柔比星治疗。作为标准治疗后的方案,CGP检测建议使用酪氨酸激酶抑制剂培米替尼;然而,患者在接受该治疗前死亡。该病例凸显了精准医疗在此类病例中改善治疗结果的潜力。