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一名青少年罕见的伴有直肠阴道瘘的泌尿生殖系统横纹肌肉瘤的诊断过程及多模式管理:病例报告

Diagnostic journey and multimodal management of a rare urogenital rhabdomyosarcoma with rectovaginal fistula in an adolescent: a case report.

作者信息

Katwal Shailendra, Ghimire Aastha, Shrestha Kriti, Amatya Suban

机构信息

Radiologist, Department of Radiology, Dadeldhura Subregional Hospital, Dadeldhura.

Patan Academy of Health Sciences, Lalitpur, Nepal.

出版信息

Ann Med Surg (Lond). 2023 Nov 7;86(1):472-476. doi: 10.1097/MS9.0000000000001423. eCollection 2024 Jan.

DOI:10.1097/MS9.0000000000001423
PMID:38222709
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10783232/
Abstract

INTRODUCTION AND IMPORTANCE

Rhabdomyosarcoma is a malignant tumour that originates from immature muscle cells and belongs to the category of soft-tissue sarcomas. It is predominantly diagnosed in children under the age of 6. This condition can manifest within the genitourinary tract and may exhibit non-specific symptoms such as changes in bowel habits and fever. Early detection and a comprehensive, multidisciplinary approach are essential to achieving more favourable outcomes. This report highlights an uncommon case of urogenital rhabdomyosarcoma in a 15-year-old girl, in addition to the presence of a rectovaginal fistula.

CASE PRESENTATION

A 15-year-old girl with presented with fever, altered bowel habits, and a lump in her lower abdomen, abdominal discomfort, and incomplete bowel evacuation. She also had faecal discharge from the vagina. Diagnostic imaging and biopsy confirmed urogenital rhabdomyosarcoma with a rectovaginal fistula. The patient is currently undergoing induction chemotherapy and is scheduled for radiation therapy and surgery.

CLINICAL DISCUSSION

Rhabdomyosarcoma is a rare paediatric oncologic concern due to its aggressive nature and potential metastasis. The presentation varies based on age, tumour location, and metastasis presence. This patient presented with altered bowel habits, a pelvic mass and unusual feculent discharge, suggesting a rectovaginal fistula. Diagnostic imaging confirmed the diagnosis, and induction chemotherapy led to a positive response and reduced tumour size.

CONCLUSION

Urogenital rhabdomyosarcoma is an aggressive malignancy with non-specific symptoms, making early diagnosis challenging. An accurate diagnosis requires high suspicion, imaging, and a biopsy. Multidisciplinary management, including surgery, chemotherapy, and radiation therapy, improves outcomes and improves paediatric patients' prognosis and quality of life.

摘要

引言与重要性

横纹肌肉瘤是一种起源于未成熟肌肉细胞的恶性肿瘤,属于软组织肉瘤范畴。它主要在6岁以下儿童中被诊断出来。这种疾病可在泌尿生殖道内表现出来,并可能出现诸如排便习惯改变和发热等非特异性症状。早期检测以及全面的多学科方法对于取得更有利的结果至关重要。本报告重点介绍了一名15岁女孩罕见的泌尿生殖系统横纹肌肉瘤病例,此外还存在直肠阴道瘘。

病例介绍

一名15岁女孩出现发热、排便习惯改变、下腹部肿块、腹部不适以及排便不完全。她还出现阴道排粪。诊断性影像学检查和活检证实为伴有直肠阴道瘘的泌尿生殖系统横纹肌肉瘤。该患者目前正在接受诱导化疗,并计划进行放疗和手术。

临床讨论

横纹肌肉瘤因其侵袭性和潜在转移而成为一种罕见的儿科肿瘤问题。其表现因年龄、肿瘤位置和转移情况而异。该患者表现出排便习惯改变、盆腔肿块和异常粪样排出,提示存在直肠阴道瘘。诊断性影像学检查确诊了病情,诱导化疗产生了积极反应并缩小了肿瘤大小。

结论

泌尿生殖系统横纹肌肉瘤是一种具有侵袭性的恶性肿瘤,症状不具特异性,早期诊断具有挑战性。准确诊断需要高度怀疑、影像学检查和活检。包括手术、化疗和放疗在内的多学科管理可改善治疗结果,提高儿科患者的预后和生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4816/10783232/6bdb9eb5ee65/ms9-86-472-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4816/10783232/6bdb9eb5ee65/ms9-86-472-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4816/10783232/6bdb9eb5ee65/ms9-86-472-g001.jpg

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