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激素相关遗传性肿瘤综合征女性患者中植入前基因检测-单基因病(PGT-M)的结局及效果

Outcomes and the effect of PGT-M in women with hormone-related hereditary tumor syndrome.

作者信息

Wang Dingran, Song Xueling, Zhu Xiaohui, Yan Liying, Zhi Xu, Yan Jie, Liang Huamao, Qiao Jie

机构信息

Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.

Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Peking University Third Hospital, Beijing, China.

出版信息

Front Oncol. 2024 May 10;14:1378019. doi: 10.3389/fonc.2024.1378019. eCollection 2024.

Abstract

PURPOSE

To review the outcome of PGT-M in hormone-related hereditary tumor syndrome and evaluate the effect of ovarian induction on tumor growth in those patients.

METHODS

Medical records of PGT-M were retrospectively analyzed in patients with hormone-related heritage tumors in our reproductive center. A total of eleven women with hereditary breast and ovarian cancer (HBOC) (including BRCA1/2 mutation carriers), and Lynch syndrome (including MMR gene mutation carriers) were included. Thirteen IVF/PGT-M cycles were performed. Eleven for PGT-M and two for fertility preservation. The ovulation protocol, numbers of oocytes retrieved and two pronuclei (2PN) zygotes, PGT-M results, and clinical outcomes were analyzed. Tumor progression was also estimated by comparing transvaginal ultrasound (TVS), MR, CT, or colonoscopy according to the follow-up requirements of different tumors.

RESULTS

Eleven IVF/PGT-M cycles were performed with an antagonist protocol; Two cycles were performed with a mild stimulation protocol. The total dose of gonadotropin (Gn) was 1827 IU per patient (range from 1200 to 2625 IU). The median number of oocytes retrieved was 13 (range from 4 to 30), and the median number of 2PN zygotes was 8 (range from 2 to 16). A total of 32 embryos underwent PGT-M, and 9 (28.1%) embryos were suitable for transfer. Six transfer cycles were performed, and 5 cycles got clinical pregnancy (83%) with five newborns (83%). The follow-up examinations conducted 10-18 months after PGT-M/delivery revealed no new lesions or tumor progression.

CONCLUSION

PGT-M results can provide important information for improving the consultation of hormone-related heritage tumor patients regarding their fertility preservation and reproductive options. Ovarian induction for women with hormone-related hereditary tumor syndrome is not associated with tumor progression.

摘要

目的

回顾激素相关遗传性肿瘤综合征中胚胎植入前遗传学检测-单基因病(PGT-M)的结果,并评估卵巢刺激对这些患者肿瘤生长的影响。

方法

对本生殖中心激素相关遗传性肿瘤患者的PGT-M病历进行回顾性分析。纳入11例遗传性乳腺癌和卵巢癌(HBOC)患者(包括BRCA1/2突变携带者)以及林奇综合征患者(包括错配修复基因(MMR)突变携带者)。共进行了13个体外受精/PGT-M周期。其中11个用于PGT-M,2个用于生育力保存。分析了排卵方案、获卵数和双原核(2PN)受精卵数、PGT-M结果及临床结局。还根据不同肿瘤的随访要求,通过比较经阴道超声(TVS)、磁共振成像(MR)、计算机断层扫描(CT)或结肠镜检查来评估肿瘤进展情况。

结果

11个IVF/PGT-M周期采用拮抗剂方案;2个周期采用温和刺激方案。每位患者促性腺激素(Gn)的总剂量为1827国际单位(范围为1200至2625国际单位)。获卵数中位数为13个(范围为4至30个),2PN受精卵数中位数为8个(范围为2至16个)。共有32个胚胎接受PGT-M检测,其中9个(28.1%)胚胎适合移植。进行了6次移植周期,5个周期临床妊娠(83%),产下5名新生儿(83%)。PGT-M/分娩后10 - 18个月进行的随访检查未发现新病变或肿瘤进展。

结论

PGT-M结果可为改善激素相关遗传性肿瘤患者生育力保存和生殖选择的咨询提供重要信息。激素相关遗传性肿瘤综合征女性的卵巢刺激与肿瘤进展无关。

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