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一名8岁女孩的原发性结膜胚胎性横纹肌肉瘤

Primary Conjunctival Embryonal Rhabdomyosarcoma in an 8-Year-Old Girl.

作者信息

Bakhtiary Shima, Barkley Michael

机构信息

Department of Pediatric Ophthalmology, Queensland Children's Hospital, Brisbane, QLD, Australia.

出版信息

Case Rep Ophthalmol. 2024 Mar 28;15(1):279-283. doi: 10.1159/000536382. eCollection 2024 Jan-Dec.

Abstract

INTRODUCTION

Rhabdomyosarcoma is a rare paediatric cancer, with the head and neck region representing a major anatomical site for rhabdomyosarcoma. In particular, orbital rhabdomyosarcoma is the most common region among children. However, rhabdomyosarcoma originating from the conjunctiva in paediatric population is a rare disease, and this knowledge is essential in order to ensure prompt treatment and early intervention.

CASE PRESENTATION

We discuss a rare case of primary conjunctival rhabdomyosarcoma in an 8-year-old Caucasian girl. She presented to a paediatric ophthalmology clinic with a 5-day history of a rapidly growing conjunctival lesion in the superior fornix of the right eye. An urgent excisional biopsy was performed which yielded a large 30-mm multilobulated, vascular, and papillomatous specimen with histopathological features consistent with embryonal rhabdomyosarcoma. She was urgently referred to oncology and was treated with systemic chemotherapy.

CONCLUSION

Therapeutical options and prognosis of rhabdomyosarcomas are based on clinical findings, tumour staging, and grouping, combined with histopathological and molecular features. Although rare, it is important to note that in the paediatric population, rhabdomyosarcoma can originate from the conjunctiva. Knowledge of its clinical, histopathological, and imaging characteristics is essential in order to achieve early diagnosis and timely treatment.

摘要

引言

横纹肌肉瘤是一种罕见的儿童癌症,头颈部是横纹肌肉瘤的主要解剖部位。特别是眼眶横纹肌肉瘤是儿童中最常见的部位。然而,儿科人群中起源于结膜的横纹肌肉瘤是一种罕见疾病,了解这一点对于确保及时治疗和早期干预至关重要。

病例介绍

我们讨论一例8岁白种女孩原发性结膜横纹肌肉瘤的罕见病例。她因右眼上穹窿部结膜病变迅速生长5天就诊于儿科眼科诊所。进行了紧急切除活检,获得了一个30毫米的大的多叶状、血管性和乳头状标本,组织病理学特征与胚胎性横纹肌肉瘤一致。她被紧急转诊至肿瘤科并接受全身化疗。

结论

横纹肌肉瘤的治疗选择和预后基于临床发现、肿瘤分期和分组,并结合组织病理学和分子特征。虽然罕见,但需要注意的是,在儿科人群中,横纹肌肉瘤可起源于结膜。了解其临床、组织病理学和影像学特征对于实现早期诊断和及时治疗至关重要。

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