腹腔镜后干预辅助和空腔子宫肿块:综述和分子的见解。

IF 2.3 4区 医学 Q2 OBSTETRICS & GYNECOLOGY
Ella Barrett-Chan, Karim Alomar, Esra'a Bukannan, Kristy Cho, Jessica A Pilsworth, C Blake Gilks, Paul Yong, David G Huntsman, Mohamed Bedaiwy
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引用次数: 0

摘要

背景:辅助空腔子宫肿块(ACUM)是一种罕见的缪勒氏异常,定义为孤立的伴子宫内膜上皮的辅助空腔肿块。目的:本文从两个方面探讨ACUM的病变,并结合一例24岁难治性痛经女性ACUM的腹腔镜辅助干预成功病例报告,回顾目前腹腔镜手术技术的文献。该病例的独特之处在于通过ACUM上的Find ITTM Panel Version 3.4进行靶向基因测序,寻找KRAS、PIK3CA和FGFR2的突变。这一过程受到最近报告的启发,该报告指出,即使是正常的子宫内膜也可能存在与癌症相关的突变。方法:综合检索Ovid MEDLINE和Embase。如果研究探讨腹腔镜手术对ACUM患者生育、月经过多或痛经相关结果的影响,则选择研究。使用JBI关键评估清单进行偏倚风险评估。结果:从160篇文章中,分析了25篇全文文章,共讨论了75名独特的患者。100%的病例(n=75/75)出现痛经,腹腔镜切除术改善了84% (n=63/75)病例的症状。该病例切除的肿块在RET (R813W)和HRAS (G12S)基因的体细胞错义突变中呈阳性,鉴定为低变异等位基因频率。结论和展望:这些结果表明腹腔镜手术入路是有效的,并且经常是治疗ACUM的首选手术入路,但治疗这些疾病的技术尚未标准化。该病例是首次证实ACUM突变的病例,表明与癌症相关的体细胞突变在其发生过程中可能起作用。该领域的未来发展可能包括发送更多的这些样本进行遗传分析,提高我们对这些病变如何形成的理解,同时也努力使它们的移除方式标准化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Outcomes Post-Laparoscopic Intervention for Accessory and Cavitated Uterine Masses: A Review and a Molecular Insight.

Background: Accessory and cavitated uterine masses (ACUM) are rare Mullerian anomalies, defined as an isolated accessory cavitated mass lined with endometrial epithelium.

Objectives: This article explores ACUM lesions from two aspects and integrates a case report of a successful laparoscopic-assisted intervention for ACUM in a 24-year-old woman with refractory dysmenorrhea with a review of current literature on laparoscopic surgical techniques. Unique to this case was the process of undergoing targeted genetic sequencing via the Find ITTM Panel Version 3.4 on the ACUM, looking for mutations in KRAS, PIK3CA, and FGFR2. A process that was inspired by recent reports that indicate that even normal endometrium can harbor cancer-associated mutations.

Methods: A comprehensive search of Ovid MEDLINE and Embase was performed. Studies were selected if they explored laparoscopic surgery's impact on ACUM patients' outcomes related to fertility, menorrhagia, or dysmenorrhea. Risk of bias assessment was performed using the JBI Critical Appraisal Checklist.

Outcome: From 160 articles identified, 25 full-text articles were analyzed with a total of 75 unique patients discussed. Dysmenorrhea was present in 100% of cases (n = 75/75), and laparoscopic resection improved patient symptoms in 84% (n = 63/75) of cases. The mass excised in the case was positive for somatic missense mutations in RET (R813W) and HRAS (G12S) genes, identified at low variant allele frequencies.

Conclusions and outlook: These results demonstrated that laparoscopic surgical approaches are effective and frequently the first surgical approach chosen for the treatment of ACUM, but that techniques to treat these conditions are not standardized. This case is the first to demonstrate mutations in ACUM, suggesting a potential role for cancer-associated somatic mutations in their genesis. Future developments in this area may include sending more of these samples for genetic analysis, improving our understanding of how these lesions are formed, while also working to standardize how they are removed.

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来源期刊
CiteScore
4.20
自引率
4.80%
发文量
44
审稿时长
6-12 weeks
期刊介绍: This journal covers the most active and promising areas of current research in gynecology and obstetrics. Invited, well-referenced reviews by noted experts keep readers in touch with the general framework and direction of international study. Original papers report selected experimental and clinical investigations in all fields related to gynecology, obstetrics and reproduction. Short communications are published to allow immediate discussion of new data. The international and interdisciplinary character of this periodical provides an avenue to less accessible sources and to worldwide research for investigators and practitioners.
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