Geyang Dai, Gaowen Chen, Xiaoxuan L I, Youhong Zheng, Yuan Wang, Xingsong Li, Jing L I, Jing Zhou, Yu Xie, Yifeng Wang
Department of Obstetrics and Gynecology, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China.
Novogene Bioinformatics Institute, Beijing 100020, China.
Nan Fang Yi Ke Da Xue Xue Bao. 2021 Jan 30;41(1):1-9. doi: 10.12122/j.issn.1673-4254.2021.01.01.
To explore the strategy of pregnancy-preserving and maternal- fetal management in patients with primary gynecologic neuroendocrine tumors (gNETs) during pregnancy.
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.
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 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.
Although gNETs in pregnancy are rare and highly risky, pregnancy-preserving managements of gNETs can still be considered and favorable maternalfetal 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.
探讨原发性妇科神经内分泌肿瘤（gNETs）患者孕期的保胎及母胎管理策略。
对一名29岁被诊断为IB2期宫颈大细胞神经内分泌癌（LCNEC）和腺癌的孕妇进行全基因组测序（WGS），以分析母胎体细胞和生殖系单核苷酸变异（SNV）以及小插入和缺失（InDel）。进行系统的文献综述，以探索在维持妊娠的同时治疗这种罕见组织学类型的策略。
孕期宫颈NETs的全球病例分析表明，阴性淋巴结转移和早期国际妇产科联盟（FIGO）分期可能与患者的良好预后相关。在本文所述病例中，采用了保胎策略，新辅助化疗、根治性手术和术后全身化疗后取得了良好的母胎结局。35周时，胎儿通过剖宫产分娩，患者术后至今无病生存19个月。WGS分析在患者的两个癌组织中发现了6个错义体细胞致病突变，其中KARS和VEGFA与靶向治疗有关。在患者及其儿子中检测到5个致病生殖系变异，提示有必要制定长期随访计划，包括为母亲和孩子提供精确的遗传咨询。
尽管孕期gNETs罕见且风险高，但仍可考虑对gNETs进行保胎管理，通过适当评估临床指征并实施多模式治疗，有可能取得良好的母胎结局。基于WGS结果的精确治疗和随访策略，用于降低癌症复发或发生的风险干预，可能使患者和新生儿受益
