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与DICER1基因突变相关的卵巢混合性性索间质瘤快速复发:病例分析与文献复习

Rapid recurrence of ovarian mixed sex-cord-stromal tumor associated with DICER1 gene mutation: a case analysis and literature review.

作者信息

Zhu Fengyi, Zhou Hai, Li Weizheng

机构信息

YunFu People's Hospital, Yunfu, China.

出版信息

Ann Med Surg (Lond). 2025 Jul 14;87(9):6045-6051. doi: 10.1097/MS9.0000000000003569. eCollection 2025 Sep.

DOI:10.1097/MS9.0000000000003569
PMID:40901169
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12401439/
Abstract

INTRODUCTION AND IMPORTANCE

Ovarian tumors are relatively rare in children and adolescent females, with mixed sex-cord-stromal tumors being a specific subtype that has a low incidence and is associated with DICER1 gene mutations.

CASE PRESENTATION

This case report describes a 14-year-old female patient diagnosed with a mixed sex-cord-stromal tumor associated with a DICER1 gene mutation, who had a rapid recurrence. The patient did not receive standardized chemotherapy after the initial surgery, and the tumor recurred within 6 months, leading to a second surgery and chemotherapy. One year of follow-up showed no recurrence.

CLINICAL DISCUSSION

This case emphasizes the complexity and biological behavior of mixed sex-cord-stromal tumors, providing important differential diagnostic insights for clinical practice. Moreover, with only three cases of recurrence reported globally, it is crucial for clinicians to take this into consideration.

CONCLUSION

The management experience from this case provides important references for future related research and clinical practice.

摘要

引言与重要性

卵巢肿瘤在儿童和青少年女性中相对少见,其中混合性性索间质肿瘤是一种特定亚型,发病率低且与DICER1基因突变相关。

病例介绍

本病例报告描述了一名14岁女性患者,被诊断为与DICER1基因突变相关的混合性性索间质肿瘤,该肿瘤迅速复发。患者在初次手术后未接受标准化化疗,肿瘤在6个月内复发,导致二次手术及化疗。一年的随访显示无复发。

临床讨论

本病例强调了混合性性索间质肿瘤的复杂性和生物学行为,为临床实践提供了重要的鉴别诊断见解。此外,全球仅报告了3例复发病例,临床医生对此加以考虑至关重要。

结论

该病例的治疗经验为未来相关研究和临床实践提供了重要参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/a8bf25b31dfb/ms9-87-6045-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/a2321c5e42d7/ms9-87-6045-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/e9ffe7fd487f/ms9-87-6045-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/6dcdcc1a98b9/ms9-87-6045-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/a8bf25b31dfb/ms9-87-6045-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/a2321c5e42d7/ms9-87-6045-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/e9ffe7fd487f/ms9-87-6045-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/6dcdcc1a98b9/ms9-87-6045-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cb0/12401439/a8bf25b31dfb/ms9-87-6045-g004.jpg

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2
A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.37例卵巢支持-间质细胞瘤的分子与免疫组化研究
Virchows Arch. 2025 Jul;487(1):127-140. doi: 10.1007/s00428-024-03984-5. Epub 2024 Nov 27.
3
Androgen receptor expression in recurrent granulosa cell tumor of the ovary: Clinical considerations of treatment and surveillance in a transgender male.
雄激素受体在复发性卵巢颗粒细胞瘤中的表达:一名跨性别男性的治疗与监测临床考量
Gynecol Oncol Rep. 2024 Sep 18;56:101504. doi: 10.1016/j.gore.2024.101504. eCollection 2024 Dec.
4
DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.与DICER1相关的肿瘤易感性:高危个体的识别及推荐的监测策略
Clin Cancer Res. 2024 Dec 16;30(24):5681-5692. doi: 10.1158/1078-0432.CCR-24-1532.
5
Ultrasound-Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview.DICER1综合征青少年患者甲状腺和卵巢病变的超声-组织病理学表现:病例报告及文献综述
Children (Basel). 2024 Mar 28;11(4):403. doi: 10.3390/children11040403.
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BMC Cancer. 2024 Mar 6;24(1):309. doi: 10.1186/s12885-024-12047-6.
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