Swyer综合征合并性腺非无性细胞瘤的恶性生殖细胞肿瘤15例临床分析

Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumors:a report of 15 cases in a national medical center

目的:探讨Swyer综合征合并性腺非无性细胞瘤的恶性生殖细胞肿瘤(MGCT-NDG)的发生率、治疗和生存结局。方法:回顾性分析2011年1月至2022年12月中国医学科学院北京协和医学院北京协和医院收治的15例Swyer综合征合并MGCT-NDG患者的临床病理资料。结果:2011年1月至2022年12月本院共收治MGCT-NDG患者307例,其中发现Swyer综合征15例,Swyer综合征合并MGCT-NDG的发生率为4.9%(15/307);确诊MGCT-NDG和Swyer综合征的年龄分别为(16.8±6.7)和(16.7±6.6)岁。初次手术方式:术前确诊Swyer综合征6例,其中4例行双侧性腺切除±子宫切除术、2例分别行性腺肿瘤剔除术及单侧性腺切除+子宫切除术;初次手术后确诊Swyer综合征9例,其中6例初次手术行单侧性腺切除术、2例行性腺肿瘤剔除术、1例行单侧性腺切除+子宫切除术。病理类型:混合性恶性生殖细胞肿瘤(MGCT)10例、卵黄囊瘤4例、未成熟畸胎瘤1例。国际妇产科联盟(FIGO)分期:Ⅰ期6例、Ⅱ期3例、Ⅲ期5例和Ⅳ期1例。11例患者在延迟(7.9±6.2)个月后再次接受残存性腺切除术,其中MGCT-NDG 8例,性腺母细胞瘤1例,另2例残存性腺未见肿瘤累及。15例患者中,10例患者经历了至少1次复发或疾病进展,其中2例在初始治疗时仅接受了手术治疗,中位无事件生存时间为9个月(5,30个月),所有复发或疾病进展的患者均接受了再次手术并联合术后化疗。15例患者的中位随访时间为25个月(15,42个月);随访期内10例无病生存、3例死于本肿瘤、1例死于白血病骨髓移植后并发症、1例带病生存。结论:Swyer综合征合并MGCT-NDG的发生率为4.9%,应强调及时诊断并行双侧性腺切除术,以降低再次手术和第二次癌变的风险。

ObjectiveTo evaluate the incidence,treatment,and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor(MGCT-NDG).MethodsA retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes.ResultsA total of 15 patients(4.9%,15/307)with Swyer syndrome were identified in 307 MGCT-NDG patients.The average age at diagnosis of MGCT-NDG and Swyer syndrome were(16.8±6.7)and(16.7±6.6)years,respectively.Six cases were preoperatively diagnosed as Swyer syndrome,of which 4 cases received bilateral gonadectomy with or without hysterectomy,while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy,respectively.Of the 9 patients postoperatively diagnosed as Swyer syndrome,unilateral gonadectomy,removal of gonadal tumor,and unilateral gonadectomy with hysterectomy were performed in 6 patients,2 patients,and 1 patient,respectively.Mixed malignant germ cell tumor(MGCT;10 cases),yolk sac tumor(4 cases),and immature teratoma(1 case)were the pathological subtypes,in the descending order.There were International Federation of Gynecology and Obstetrics(FIGO)stageⅠin 6 cases,stageⅡin 3 cases,stageⅢin 5 cases,and stageⅣin 1 case,respectively.Eleven patients received reoperation for residual gonadectomy after a average delay of(7.9±6.2)months,including 8 MGCT-NDG patients and 1 gonadoblastoma patient,no tumor involved was seen in the remaining gonads in the other 2 cases.Ten patients experienced at least one recurrence,with a median event free survival of 9 months(5,30 months),of which 2 patients received surgery only at the time of initial treatment.All patients with recurrence received surgery and combined with postoperative chemotherapy.After a median follow-up of 25 months(15,42 months),10 patients were disease-free,3 patients died of the tumor,1 died of side effects of leukemia chemotherapy,and 1 survived with disease.ConclusionThe incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%;timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.