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

IF 0.5 Q4 OPHTHALMOLOGY Case Reports in Ophthalmology Pub Date : 2024-03-28 eCollection Date: 2024-01-01 DOI:10.1159/000536382
Shima Bakhtiary, Michael Barkley
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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.

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一名 8 岁女孩的原发性结膜胚胎性横纹肌肉瘤
简介:横纹肌肉瘤是一种罕见的儿童癌症:横纹肌肉瘤是一种罕见的儿科癌症,头颈部是横纹肌肉瘤的主要解剖部位。其中,眼眶横纹肌肉瘤是儿童中最常见的部位。然而,源自儿童结膜的横纹肌肉瘤是一种罕见疾病,为了确保及时治疗和早期干预,这方面的知识至关重要:我们讨论的是一例罕见的原发性结膜横纹肌肉瘤病例,患者是一名 8 岁的白种女孩。她因右眼上穹窿处的结膜病变迅速增大而到儿童眼科门诊就诊,病史已有 5 天。医生紧急为她进行了切除活检,发现了一个 30 毫米大的多叶状、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。她被紧急转到肿瘤科,接受了全身化疗:横纹肌肉瘤的治疗方案和预后取决于临床表现、肿瘤分期和分组,以及组织病理学和分子特征。尽管罕见,但必须注意的是,在儿科人群中,横纹肌肉瘤可能起源于结膜。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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来源期刊
CiteScore
0.90
自引率
0.00%
发文量
129
审稿时长
12 weeks
期刊介绍: This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of ophthalmology, including prevention, diagnosis, treatment, toxicities of therapy, supportive care, quality-of-life, and survivorship issues. The submission of negative results is strongly encouraged. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed. The intent of the journal is to provide clinicians and researchers with a tool to disseminate their personal experiences to a wider public as well as to review interesting cases encountered by colleagues all over the world. Universally used terms can be searched across the entire growing collection of case reports, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.
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