原发纵隔生殖细胞瘤相关血液肿瘤1例并文献复习  

Hematologic malignancies associated with primary mediastinal germ cell tumors:A case report and literature review

作　　者：吴彬 陈开澜[1] 吴沙 唐威 李晖[1] WU Bin;CHEN Kailan;WU Sha;TANG Wei;LI Hui(Department of Oncology,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science&Technology,Hubei Wuhan 430016,China.)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院肿瘤科,湖北武汉430016

出　　处：《现代肿瘤医学》2023年第23期4405-4409,共5页Journal of Modern Oncology

摘　　要：目的:探讨原发纵隔生殖细胞瘤(primary mediastinal germ cell tumors,PMGCTs)相关血液肿瘤(hematologic malignancies,HMs)的临床特点,以期提高对该病的认识。方法:回顾性分析我院1例PMGCT相关HM患者的临床资料,并结合文献总结该类疾病的临床特点。结果:患者男性,12岁,以乏力并胸部不适为首发症状,行胸部CT增强扫描提示右前上纵隔包块,接受纵隔肿块切除术,病理报告提示混合性生殖细胞瘤。患者外周血染色体核型提示:47,XXY,诊断为PMGCT合并克氏综合征(Klinefelter’s syndrome,KS)。手术切除联合化疗治疗结束后2个月出现难治性血细胞减少,经骨穿等检查诊断为骨髓增生异常综合征(myelodysplastic syndromes,MDS),给予地西他滨治疗获得部分缓解,后因经济原因放弃治疗死亡。对患者纵隔生殖细胞肿瘤(mediastinal germ cell tumor,MGCT)组织和MDS骨髓样本分别行基因检测发现二者均有KRAS基因体细胞突变,突变频率相似。文献复习PMGCTs相关HMs是一种独特的临床综合征,年轻男性易患,PMGCTs和相关的HMs存在共同克隆起源。该病进展迅速,目前无标准治疗,预后极差。结论:PMGCTs相关HMs发病率低,表现为侵袭性病程,对于PMGCTs需密切随访监测HMs,以早期诊断及治疗。Objective:To investigate the clinical characteristics of hematologic malignancies(HMs)associated with primary mediastinal germ cell tumors(PMGCTs)so as to improve understanding of the disease.Methods:We retrospectively analyzed the clinical data of a patient with HM associated with PMGCT admitted to our hospital and reviewed relevant literature.Results:We describe the case of a 12-year-old male presented with fatigue and chest discomfort.Enhanced computerized tomography(CT)of the chest indicated soft tissue occupation of the right anterior mediastinum.The patient accepted mediastinal mass resection,and the pathologic diagnosis was mixed germ cell tumor.Peripheral blood karyotype shows 47,XXY and the patient was diagnosed with PMGCT and Klinefelter's syndrome.The patient subsequently found to have refractory cytopenia two months later following treatment with surgery and standard chemotherapy.Bone marrow pathology was consistent with a diagnosis of myelodysplastic syndromes(MDS).The patient experienced a partial remission while on dicitabine therapy but ultimately died after abandoning treatment.Next-generation sequencing revealed KRAS somatic mutation at similar variant allele frequencies in both the mediastinal germ cell tumor(MGCT)and MDS samples.According to the literature review result,this association represents a unique clinical syndrome and a shared clonal origin was demonstrated in both malignancies.This syndrome is rapidly fatal disorders and found exclusively in young male patients.The outcome was grave and standard treatment modalities have yet to be established.Conclusion:HMs associated with PMGCTs have a low incidence and generally display an aggressive clinical course.Those with PMGCTs should be followed-up closely monitored for HMs so as to early intervene.

关 键 词：原发纵隔生殖细胞瘤 骨髓增生异常综合征 先天性睾丸发育不全 KRAS基因 

分 类 号：R733[医药卫生—肿瘤]