卡波扎尼布
医学
结直肠癌
肿瘤科
疾病
化疗
基因检测
血癌
内科学
微卫星不稳定性
癌症
基因
遗传学
等位基因
生物
微卫星
作者
Sadahiro Fukui,Katsutsugu Umeda,Hirohito Kubota,Atsushi Iwai,Ryo Akazawa,Kiyotaka Isobe,Kuniaki Tanaka,Kagehiro Kouzuki,Naoko Kawabata,Satoshi Saida,Itaru Kato,Hidefumi Hiramatsu,Yoshiro Itatani,Taro Funakoshi,Souichi Adachi,Junko Takita
标识
DOI:10.1097/mph.0000000000002482
摘要
Pediatric colorectal cancer (CRC) is extremely rare, with little information about genetic profiles compared with adult CRC. Here, a 13-year-old male with advanced CRC underwent cancer gene panel testing, which detected 4 genetic abnormalities ( MET amplification in addition to TP53 , SMAD4 , and CTNNA1 mutations) that might be associated with a poor prognosis. Based on high-level MET amplification, he received a multikinase inhibitor, cabozantinib, after failure of first-line and second-line chemotherapy, resulting in transient disease stabilization. Tailored targeted therapy based on molecular profiling can be an effective treatment strategy for rare cancers such as pediatric CRC.
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