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病例报告:一名成年女性子宫胚胎性横纹肌肉瘤病例——诊断过程的复杂性探索

Case Report: A case of uterine embryonal rhabdomyosarcoma in adult female-navigating the complexities of the diagnostic journey.

作者信息

Li Sijing, Zhou Dongni, Zu Qiao, Jia Ying

机构信息

Department of Obstetrics and Gynecology, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.

Department of Obstetrics and Gynecology, Chongqing Health Center for Women and Children, Chongqing, China.

出版信息

Front Oncol. 2025 Jul 9;15:1535933. doi: 10.3389/fonc.2025.1535933. eCollection 2025.

DOI:10.3389/fonc.2025.1535933
PMID:40703554
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12284824/
Abstract

Rhabdomyosarcoma (RMS) is a soft tissue sarcoma originating from primitive mesenchymal cells that exhibit varying degrees of skeletal muscle differentiation. Although RMS predominantly affects children and adolescents-representing one of the most common pediatric solid malignancies-it is exceptionally rare in adults, constituting less than 1% of adult cancers. Due to its embryonic mesenchymal origin, RMS can develop in virtually any organ. In adults, the most common sites are the trunk (27%) and limbs (26%), with the reproductive tract accounting for 17%. Current understanding of adult embryonal RMS primarily relies on case reports, as it is often misdiagnosed as other benign or malignant solid tumors. Here, we report a case of botryoid RMS of the uterine cervix in an adult woman. The diagnostic process was prolonged; after five visits and four biopsies, the diagnosis of rhabdomyosarcoma was finally confirmed. Based on pathological findings and imaging examinations, the clinical stage was determined to be T1N0M0 and Intergroup Rhabdomyosarcoma Study (IRS) IA. The patient was initially scheduled for surgery following neoadjuvant chemotherapy. However, after one cycle of chemotherapy, she experienced massive vaginal bleeding and prolapse of the cervical polypoid mass. Due to significant psychological distress, the patient declined further chemotherapy and insisted on proceeding with surgery. Subsequently, she underwent a robot-assisted laparoscopic radical hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymph node dissection. A total of six cycles of the VA chemotherapy regimen were administered both pre- and postoperatively. Unfortunately, the 8-month postoperative follow-up results were unfavorable. Less than a year after surgery, contrast-enhanced pelvic MRI revealed enlarged pelvic lymph nodes, suggesting a possible recurrence. The purpose of this study was to report a case of embryonal rhabdomyosarcoma (ERMS) of the uterine cervix in an adult woman and to highlight the diagnostic and therapeutic challenges associated with this condition.

摘要

横纹肌肉瘤(RMS)是一种起源于原始间充质细胞的软组织肉瘤,这些细胞表现出不同程度的骨骼肌分化。尽管RMS主要影响儿童和青少年——是最常见的儿科实体恶性肿瘤之一——但在成年人中极为罕见,占成人癌症的比例不到1%。由于其胚胎间充质起源,RMS几乎可以在任何器官中发生。在成年人中,最常见的部位是躯干(27%)和四肢(26%),生殖道占17%。目前对成人胚胎性RMS的认识主要依赖于病例报告,因为它常常被误诊为其他良性或恶性实体肿瘤。在此,我们报告一例成年女性宫颈葡萄状RMS病例。诊断过程漫长;经过五次就诊和四次活检,最终确诊为横纹肌肉瘤。根据病理结果和影像学检查,临床分期确定为T1N0M0和国际横纹肌肉瘤研究组(IRS)IA期。患者最初计划在新辅助化疗后进行手术。然而,在一个化疗周期后,她出现大量阴道出血和宫颈息肉样肿物脱垂。由于严重的心理困扰,患者拒绝进一步化疗并坚持进行手术。随后,她接受了机器人辅助腹腔镜根治性子宫切除术、双侧输卵管卵巢切除术和盆腔淋巴结清扫术。术前和术后共进行了六个周期的VA化疗方案。不幸的是,术后8个月的随访结果不佳。手术后不到一年,盆腔增强MRI显示盆腔淋巴结肿大,提示可能复发。本研究的目的是报告一例成年女性宫颈胚胎性横纹肌肉瘤(ERMS)病例,并强调与该疾病相关的诊断和治疗挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/d5dbf28184de/fonc-15-1535933-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/b7a6f2dc7346/fonc-15-1535933-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/8f3e420b54af/fonc-15-1535933-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/e4991553339d/fonc-15-1535933-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/a8865de09d49/fonc-15-1535933-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/97f4bb0c3d22/fonc-15-1535933-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/d5dbf28184de/fonc-15-1535933-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/b7a6f2dc7346/fonc-15-1535933-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/8f3e420b54af/fonc-15-1535933-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/e4991553339d/fonc-15-1535933-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/a8865de09d49/fonc-15-1535933-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/97f4bb0c3d22/fonc-15-1535933-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0524/12284824/d5dbf28184de/fonc-15-1535933-g006.jpg

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本文引用的文献

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Uterine embryonal rhabdomyosarcoma in adult women: a case report on the challenging diagnosis and treatment.成年女性子宫胚胎型横纹肌肉瘤:一例诊断和治疗极具挑战性病例报告。
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Embryonal rhabdomyosarcoma of the uterine cervix in an adult female.成年女性子宫颈胚胎性横纹肌肉瘤
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