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目的 探讨妊娠合并生殖道神经内分泌肿瘤(NETs)患者维持妊娠及母婴管理策略.方法 结合癌灶体细胞系与母子胚系WGS测序和系统分析妊娠合并生殖道NETs报道病例诊疗方案,优化罕见宫颈大细胞NETs合并妊娠的诊疗策略.结果 病例分析提示阴性淋巴结转移和FIGO分期早与患者良好预后相关,评价本病例后采用维持妊娠治疗,经新辅助化疗等综合措施,随访迄今19月母子健康.WGS发现6个体细胞系错义致病性突变,其中KARS、VEGFA等与靶向药物选择相关;母子胚系共发现5个致病性肿瘤易感基因突变.结论 优化临床处置策略,妊娠合并宫颈NETs患者可获得良好母婴结局;WGS有利于制定精准的临床诊疗与随访方案.“,”Objective To explore the strategy of pregnancy-preserving and maternal-fetal management in patients with primary gynecologic neuroendocrine tumors(gNETs)during pregnancy.Methods We performed whole genome sequencing(WGS)for analyzing maternal and fetal somatic and germline single nucleotide variations(SNVs)and small insertions and deletions(InDels)for a 29-year-old pregnant woman diagnosed with stage IB2 large cell neuroendocrine carcinoma(LCNEC)and adenocarcinoma in the cervix.A systematic literature review was performed to explore the strategies for treatment of such rare histological type while maintaining pregnancy.Results Global case analysis of cervical NETs during pregnancy suggested that negative lymph node metastasis and an early FIGO stage were potentially associated with a good prognosis of the patients.In the case presented herein,a pregnancy-preserving strategy was adopted and favorable maternal-fetal outcomes were achieved after neoadjuvant chemotherapy,radical surgery and postoperative systemic chemotherapy.At 35+5 weeks,the fetus was delivered by caesarian section,and the patient has by now had a disease-free survival of 19 months postoperatively.WGS analysis revealed 6 missense somatic pathogenic mutations in two cancer tissues of the patient,and among them KARS and VEGFA were related with targeted therapy.Five pathogenic germline variants were detected in the patient and her son,suggesting the necessity of a long-term follow-up schedule including precise genetic counselling for both the mother and the child.Conclusion Although gNETs in pregnancy are rare and highly risky,pregnancy-preserving managements of gNETs can still be considered and favorable maternal-fetal outcomes are possible with proper assessment of the clinical indications and implementation of multimodal treatments.Precise treatment and follow-up strategies based on the results of WGS for risk-reducing intervention of cancer recurrence or occurrence can potentially benefit the patient and the neonate.