Abstract：
OBJECTIVE: To assess the use of molecular genotyping to accurately diagnose and treat human chorionic gonadotropin (hCG)-producing tumors and to evaluate the discriminating capacity of molecular testing on prognosis and overall survival.
METHODS: We conducted a retrospective descriptive study of patients registered with the French Reference Center for Trophoblastic Disease between 1999 and 2021. We included all patients with hCG-producing tumors for whom results of molecular genotyping were available.
RESULTS: Fifty-five patients with molecular genotyping were included: 81.2 % (n = 45) had tumors of gestational origin, 12.7 % (n = 7) of non-gestational origin and 5.5 % (n = 3) of undetermined origin. The results of molecular genotyping influenced the treatment decisions for 17 % of patients in this cohort. Overall survival was 93.3 % for patients with gestational tumors (after a median follow-up of 74 months) compared to 71.4 % for patients with non-gestational tumors (after a median follow-up of 23 months).
CONCLUSIONS: In atypical presentations of hCG-producing tumors, molecular genotyping is a valuable tool to guide diagnosis and tailor treatment recommendations.
METHODS: We conducted a retrospective descriptive study of patients registered with the French Reference Center for Trophoblastic Disease between 1999 and 2021. We included all patients with hCG-producing tumors for whom results of molecular genotyping were available.
RESULTS: Fifty-five patients with molecular genotyping were included: 81.2 % (n = 45) had tumors of gestational origin, 12.7 % (n = 7) of non-gestational origin and 5.5 % (n = 3) of undetermined origin. The results of molecular genotyping influenced the treatment decisions for 17 % of patients in this cohort. Overall survival was 93.3 % for patients with gestational tumors (after a median follow-up of 74 months) compared to 71.4 % for patients with non-gestational tumors (after a median follow-up of 23 months).
CONCLUSIONS: In atypical presentations of hCG-producing tumors, molecular genotyping is a valuable tool to guide diagnosis and tailor treatment recommendations.
摘要：
目的：评估分子基因分型在准确诊断和治疗产生人绒毛膜促性腺激素（hCG）的肿瘤中的应用，并评估分子检测对预后和总生存期的辨别能力。
方法：我们对1999年至2021年在法国滋养细胞疾病参考中心注册的患者进行了回顾性描述性研究。我们纳入了所有可获得分子基因分型结果的产生hCG的肿瘤患者。
结果：包括55例分子基因分型患者：81.2％（n=45）患有妊娠起源的肿瘤，12.7%(n=7)的非妊娠起源和5.5%(n=3)的未确定起源。分子基因分型的结果影响了该队列中17％患者的治疗决定。妊娠肿瘤患者（中位随访74个月后）的总生存率为93.3％，而非妊娠肿瘤患者（中位随访23个月后）的总生存率为71.4％。
结论：在产生hCG的肿瘤的非典型表现中，分子基因分型是指导诊断和定制治疗建议的有价值的工具。
方法：我们对1999年至2021年在法国滋养细胞疾病参考中心注册的患者进行了回顾性描述性研究。我们纳入了所有可获得分子基因分型结果的产生hCG的肿瘤患者。
结果：包括55例分子基因分型患者：81.2％（n=45）患有妊娠起源的肿瘤，12.7%(n=7)的非妊娠起源和5.5%(n=3)的未确定起源。分子基因分型的结果影响了该队列中17％患者的治疗决定。妊娠肿瘤患者（中位随访74个月后）的总生存率为93.3％，而非妊娠肿瘤患者（中位随访23个月后）的总生存率为71.4％。
结论：在产生hCG的肿瘤的非典型表现中，分子基因分型是指导诊断和定制治疗建议的有价值的工具。
