南方医科大学学报2021，Vol.41Issue(1)：1-9,9.DOI:10.12122/j.issn.1673-4254.2021.01.01
罕见宫颈大细胞神经内分泌癌患者的维持妊娠与母婴管理
Pregnancy-preserving and maternal-fetal management in a patient with rare large cell neuroendocrine carcinoma of the uterine cervix
摘要
Abstract
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.关键词
女性生殖道神经内分泌肿瘤/大细胞神经内分泌癌/维持妊娠/母婴管理/肿瘤易感基因Key words
primary gynecologic neuroendocrine tumors/large cell neuroendocrine carcinoma/pregnancy-preserving management/maternal-fetal management/cancer predisposing genes引用本文复制引用
戴戈扬,王沂峰,陈高文,李肖璇,郑友红,王袁,李兴嵩,李菁,周璟,谢郁..罕见宫颈大细胞神经内分泌癌患者的维持妊娠与母婴管理[J].南方医科大学学报,2021,41(1):1-9,9.基金项目
Supported by National Natural Science Foundation of China(81773291).国家自然科学基金(81773291) （81773291）
