一名20多岁的妇女出现咳嗽和发烧。3年前,她因子宫平滑肌瘤接受了腹部子宫肌瘤切除术。胸部CT和正电子发射断层扫描-CT显示双肺有多个圆形结节,提示转移性病变。进行了CT引导下的肺活检,根据病理分析,肿瘤被诊断为肺良性转移性平滑肌瘤(PBML)。子宫平滑肌瘤和PBML切片的全外显子捕获测序显示13个基因(MCM10、SLC16A9、RAG1、BAZ1A、NLRP2,TRMT61B,CPXM1,NGLY1,SUCLG2,FAM13A,CAGE1,PHTF2和ZDHHC2)同时存在于两个肿瘤中。患者每4周接受一次戈舍瑞林注射。开始治疗2周后症状改善。三个疗程的戈舍瑞林治疗后,肺结节的大小显着减小。结节大小随着治疗继续减小。
A woman in her early 20s presented with cough and fever. She had undergone an abdominal myomectomy 3 years ago for uterine leiomyoma. Chest CT and positron emission tomography-CT revealed multiple round nodules in both lungs, suggesting metastatic lesions. A CT-guided lung biopsy was performed, and the tumour was diagnosed as pulmonary benign metastasising leiomyoma (PBML) based on pathological analyses. Whole exon capture sequencing of uterine leiomyoma and PBML sections revealed that 13 genes (MCM10, SLC16A9, RAG1, BAZ1A, NLRP2, TRMT61B, CPXM1, NGLY1, SUCLG2, FAM13A, CAGE1, PHTF2 and ZDHHC2) were concurrently present in the two tumours. The patient was prescribed goserelin injections every 4 weeks. The symptoms improved 2 weeks after starting the treatment. The lung nodules considerably decreased in size after three courses of goserelin treatment. The nodular size continues to decrease with the treatment.