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曲美替尼在一名BRAF突变转移性尿路上皮癌患者中的疗效。

Efficacy of trametinib in a metastatic urothelial carcinoma patient with a BRAF mutation.

作者信息

Karasawa Hiroyuki, Yasumizu Yota, Kosaka Takeo, Shimoi Tatsunori, Oya Mototsugu

机构信息

Department of Urology Keio University School of Medicine Tokyo Japan.

Department of Breast and Medical Oncology National Cancer Hospital Tokyo Japan.

出版信息

IJU Case Rep. 2024 Jul 10;7(5):375-378. doi: 10.1002/iju5.12759. eCollection 2024 Sep.

DOI:10.1002/iju5.12759
PMID:39224677
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11366432/
Abstract

INTRODUCTION

BRAF mutations in bladder cancer are rare. MEK inhibitors have excellent clinical benefits in the treatment of melanoma.

CASE PRESENTATION

A 60-year-old male was diagnosed with muscle-invasive bladder cancer and underwent total cystectomy and ileal conduit diversion. Despite 4 cycles of gemcitabine and cisplatin chemotherapy and 3 courses of pembrolizumab, the left obturator lymph node enlarged. Cancer multi-gene panel testing confirmed the BRAF G469A mutation and trametinib was recommended. Three months after the initiation of trametinib (2 mg, qd), the left obturator lymph node shrank by more than 50%. The disease has remained stable for more than 18 months.

CONCLUSION

The present case indicates the potential of trametinib to treat mBUC patients with the BRAF G469A mutation in this setting.

摘要

引言

膀胱癌中的BRAF突变罕见。MEK抑制剂在治疗黑色素瘤方面具有出色的临床疗效。

病例报告

一名60岁男性被诊断为肌层浸润性膀胱癌，接受了全膀胱切除术和回肠膀胱术。尽管接受了4个周期的吉西他滨和顺铂化疗以及3个疗程的帕博利珠单抗治疗，左闭孔淋巴结仍肿大。癌症多基因检测证实存在BRAF G469A突变，建议使用曲美替尼。开始使用曲美替尼（2毫克，每日一次）三个月后，左闭孔淋巴结缩小超过50%。疾病已稳定超过18个月。

结论

本病例表明，在这种情况下，曲美替尼有治疗BRAF G469A突变的肌层浸润性膀胱癌患者的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f92/11366432/38037cac2b84/IJU5-7-375-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f92/11366432/682d974a0520/IJU5-7-375-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f92/11366432/38037cac2b84/IJU5-7-375-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f92/11366432/682d974a0520/IJU5-7-375-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f92/11366432/38037cac2b84/IJU5-7-375-g001.jpg

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本文引用的文献

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Cell Rep. 2022 Dec 20;41(12):111859. doi: 10.1016/j.celrep.2022.111859.
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Pediatr Blood Cancer. 2022 Nov;69(11):e29742. doi: 10.1002/pbc.29742. Epub 2022 Jun 2.
3
Response of metastatic acral melanoma with exon 11 BRAF G469A mutation to BRAF/MEK inhibition.
伴有外显子11 BRAF G469A突变的转移性肢端黑色素瘤对BRAF/MEK抑制的反应。
J Dtsch Dermatol Ges. 2022 Apr;20(4):528-530. doi: 10.1111/ddg.14737. Epub 2022 Feb 26.
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Activating BRAF G469A Missense Mutation in a Pediatric Patient With High-Grade Glioma.一名患有高级别胶质瘤的儿科患者中激活的BRAF G469A错义突变
J Neuropathol Exp Neurol. 2021 Dec 29;80(12):1141-1142. doi: 10.1093/jnen/nlab102.
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Impact of histological variants on outcomes in patients with urothelial carcinoma treated with pembrolizumab: a propensity score matching analysis.帕博利珠单抗治疗尿路上皮癌患者的组织学亚型对结局的影响：倾向评分匹配分析。
BJU Int. 2022 Aug;130(2):226-234. doi: 10.1111/bju.15510. Epub 2021 Jul 6.
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Defining and Targeting BRAF Mutations in Solid Tumors.定义和靶向固体肿瘤中的 BRAF 突变。
Curr Treat Options Oncol. 2021 Feb 27;22(4):30. doi: 10.1007/s11864-021-00827-2.
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