靶向气管转移性腺样囊性癌中MET和KRAS G12C共发生突变：一例报告
Targeting MET and KRAS G12C co-occurring mutation in metastatic adenoid cystic carcinoma of the trachea: a case report.
作者信息
Zhang Ling, Wang Tonghui, Xu Yan, Ji Youxin, Nie Keke
机构信息
Department of Oncology, Qingdao Central Hospital, University of Health and Rehabilitation Sciences (Qingdao Central Hospital), 127 Si Liu South Road, Qingdao, 266042, China.
Department of Pharmacology, Jiaozhou Central Hospital, Qingdao, 266300, China.
出版信息
J Med Case Rep. 2025 Aug 5;19(1):389. doi: 10.1186/s13256-025-05246-7.
BACKGROUND
MET and KRAS comutation in the same group of cells of primary tracheal adenoid cystic carcinoma is extremely rare; there is no standard of care for patient with metastatic disease.
CASE PRESENTATION
We report a 42-year-old treatment-naïve Chinese male patient with metastatic tracheal adenoid cystic carcinoma harboring a MET p.D1010Y and KRAS p.G12C comutation. The patient responded well to the MET inhibitor crizotinib and MEK inhibitor trametinib combination therapy, but had progression when he discontinued trametinib because of grade III rashes on the face and trunk. With the reintroduction of trametinib with a dose reduction, his metastatic lesions shrank after 2 months of therapy.
CONCLUSION
MET p.D1010Y and KRAS p.G12C comutation is extremely rare and could happen concurrently in the same group of cells of metastatic tracheal adenoid cystic carcinoma; crizotinib combined with trametinib is effective, and the toxicities are manageable.
背景
原发性气管腺样囊性癌同一组细胞中同时存在MET和KRAS突变极为罕见；对于转移性疾病患者尚无标准治疗方案。
病例介绍
我们报告了一名42岁未经治疗的中国男性转移性气管腺样囊性癌患者，其存在MET p.D1010Y和KRAS p.G12C共突变。该患者对MET抑制剂克唑替尼和MEK抑制剂曲美替尼联合治疗反应良好，但因面部和躯干出现III级皮疹而停用曲美替尼后病情进展。在减量重新使用曲美替尼后，治疗2个月后其转移性病灶缩小。
结论
MET p.D1010Y和KRAS p.G12C共突变极为罕见，可同时发生于转移性气管腺样囊性癌的同一组细胞中；克唑替尼联合曲美替尼有效，且毒性可控。
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