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。 Objective To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods A 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. Results A 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) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 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. Conclusion The 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.
Abstract
Objective To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods A 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. Results A 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) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 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. Conclusion The 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.
关键词
性腺发育不全,46,/XY/生殖器肿瘤,女（雌）性/肿瘤,生殖细胞和胚胎性/发病率/存活率
Key words
Gonadal dysgenesis, 46,XY/Genital neoplasms, female/Neoplasms, germ cell and embryonal/Incidence/Survival rate
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