Objectives

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).

Conclusion

In atypical presentations of hCG-producing tumors, molecular genotyping is a valuable tool to guide diagnosis and tailor treatment recommendations.

中文翻译：

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分子基因分型对人绒毛膜促性腺激素分泌肿瘤诊断和治疗的影响

目标

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体生存的辨别能力。

方法

我们对 1999 年至 2021 年间在法国滋养细胞疾病参考中心注册的患者进行了一项回顾性描述性研究。我们纳入了所有可获取分子基因分型结果的产生 hCG 肿瘤的患者。

结果

纳入了 55 名进行分子基因分型的患者：81.2 % ( n  = 45 ) 具有妊娠起源的肿瘤， 12.7 % ( n  = 7 ) 具有非妊娠起源的肿瘤， 5.5 % ( n  = 3 ) 具有未确定起源的肿瘤。分子基因分型的结果影响了该队列中 17% 患者的治疗决策。妊娠肿瘤患者的总生存率为 93.3%（中位随访 74 个月后），而非妊娠肿瘤患者的总生存率为 71.4%（中位随访 23 个月后）。

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制定治疗建议的宝贵工具。