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病例报告与文献综述:二代测序辅助诊断盆腔腹膜后血管肌纤维母细胞瘤

A case report and literature review: Diagnosis of pelvic retroperitoneal angiomyofibroblastoma assisted by next-generation sequencing.

作者信息

Meng Yue, Shi Xiaomeng, Zhang Qianshi

机构信息

Department of Gastrointestinal Surgery, The Second Affiliated Hospital of Dalian Medical University, Dalian, China.

Piedmont Urgent Care by Wellstreet, Atlanta, GA, United States.

出版信息

Front Oncol. 2025 Sep 10;15:1560543. doi: 10.3389/fonc.2025.1560543. eCollection 2025.

DOI:10.3389/fonc.2025.1560543
PMID:41001044
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12457169/
Abstract

Angiomyofibroblastoma (AMFB) is a rare benign soft tissue tumor that primarily arises in the vulvovaginal region of women of reproductive age. Due to its rarity, AMFB is often overlooked in the differential diagnosis, and as such, it is not frequently encountered in clinical practice. Here, we present the case of a 29-year-old female with a pelvic retroperitoneal tumor, confirmed postoperatively as AMFB based on histopathological and immunohistochemical findings. Additionally, we highlight the utility of next-generation sequencing (NGS) as a valuable tool in the differential diagnosis of such rare tumors. Due to the tumor was located at the narrow part of the pelvis and was adjacent to important tissues and organs such as the uterus and bladder, we performed surgical resection using the Da Vinci robotic system after obtaining the patient's informed consent. The procedure was successful, with no complications observed during the three-month postoperative follow-up. Furthermore, we reviewed the literature on AMFB, focusing on reported cases to identify and summarize patient characteristics, clinical presentations, histological features, and diagnostic challenges associated with this rare tumor. We aim to offer a reference for clinicians facing similar cases, aiding in accurate diagnosis and management, while addressing the challenges posed by the rarity and diagnostic complexity of angiomyofibroblastic tumors, ultimately improving clinical outcomes and advancing knowledge.

摘要

血管肌纤维母细胞瘤(AMFB)是一种罕见的良性软组织肿瘤,主要发生于育龄女性的外阴阴道区域。由于其罕见性,AMFB在鉴别诊断中常被忽视,因此在临床实践中并不常见。在此,我们报告一例29岁女性盆腔腹膜后肿瘤病例,术后根据组织病理学和免疫组化结果确诊为AMFB。此外,我们强调了下一代测序(NGS)作为鉴别诊断此类罕见肿瘤的宝贵工具的作用。由于肿瘤位于盆腔狭窄部位且毗邻子宫和膀胱等重要组织器官,我们在获得患者知情同意后,使用达芬奇机器人系统进行了手术切除。手术成功,术后三个月随访未观察到并发症。此外,我们回顾了关于AMFB的文献,重点关注已报道病例,以识别和总结患者特征、临床表现、组织学特征以及与这种罕见肿瘤相关的诊断挑战。我们旨在为面对类似病例的临床医生提供参考,帮助准确诊断和管理,同时应对血管肌纤维母细胞瘤的罕见性和诊断复杂性带来的挑战,最终改善临床结局并增进认识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/1c010057cff7/fonc-15-1560543-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/f7ca50cb28ef/fonc-15-1560543-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/c22a8e10b972/fonc-15-1560543-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/486790d7c772/fonc-15-1560543-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/1c010057cff7/fonc-15-1560543-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/f7ca50cb28ef/fonc-15-1560543-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/c22a8e10b972/fonc-15-1560543-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/486790d7c772/fonc-15-1560543-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4351/12457169/1c010057cff7/fonc-15-1560543-g004.jpg

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本文引用的文献

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Cystic Angiomyofibroblastoma of the Uterus Mimicking Ovarian Cancer.子宫囊性血管肌纤维母细胞瘤,酷似卵巢癌。
Medicina (Kaunas). 2024 Oct 8;60(10):1645. doi: 10.3390/medicina60101645.
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Vulvo-vaginal stromal tumours - Case series of a rare entity from an oncology centre in India.外阴阴道间质瘤——来自印度一家肿瘤中心的罕见病例系列
Gynecol Oncol Rep. 2024 Jul 28;55:101464. doi: 10.1016/j.gore.2024.101464. eCollection 2024 Oct.
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Pelvic actinomycosis: A case report and literature review.盆腔放线菌病:一例病例报告及文献综述
Asian J Surg. 2024 Oct;47(10):4562-4563. doi: 10.1016/j.asjsur.2024.07.251. Epub 2024 Jul 30.
4
Angiomyofibroblastoma of the vulva: A case report and review of the literature.外阴血管肌成纤维细胞瘤:一例病例报告并文献复习
Case Rep Womens Health. 2024 May 17;42:e00617. doi: 10.1016/j.crwh.2024.e00617. eCollection 2024 Jun.
5
Ultrasonography and clinical findings of angiomyofibroblastoma in the right inguinal region.右侧腹股沟区血管肌纤维母细胞瘤的超声检查及临床 findings(这里的“findings”可能是“发现”“表现”等意思,结合语境应为“表现”更合适)
Med Ultrason. 2024 Mar 27;26(1):105-106. doi: 10.11152/mu-4328.
6
Para testicular cellular angiofibroma (AF)/angiomyofibroblastoma (AMF)-like tumor: A case report of a rare diagnosis in an elderly male.附睪细胞血管纤维瘤(AF)/血管肌纤维母细胞瘤(AMF)样肿瘤:一例老年男性罕见病例报告。
Indian J Cancer. 2023 Oct 1;60(4):572-574. doi: 10.4103/ijc.IJC_249_21. Epub 2023 Dec 29.
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A rare case of gluteal lipoma with pelvic extension mimicking an adnexal mass.一例罕见的伴有盆腔延伸、酷似附件肿块的臀脂瘤。
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Pelvic Synovial Sarcoma Clinically Masquerading as an Ovarian Malignancy.临床上伪装成卵巢恶性肿瘤的盆腔滑膜肉瘤
Ochsner J. 2023 Spring;23(1):82-87. doi: 10.31486/toj.22.0046.
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Clin Infect Dis. 2023 May 3;76(9):1685-1687. doi: 10.1093/cid/ciac558.
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