Primary Conjunctival Rhabdomyosarcoma in a Pediatric Patient

Abstract

Rhabdomyosarcomas are neoplasms with a high degree of malignancy and arise from the embryonic mesenchyme. They represent approximately 5% of all pediatric tumors and their main locations are the head and neck (45%), trunk (40%), and extremities (15%). Twenty-five percent to 30% of the head and neck rhabdomyosarcomas appear in the orbit; however, its origin from the conjunctiva is rare, with few case reports published in the literature. We present the case of a five-year-old girl with a diagnosis of primary embryonic rhabdomyosarcoma of the conjunctiva, treated with surgery and chemotherapy. After completing the treatment, it was followed up with controls for oncological ophthalmology, pediatric hematology-oncology, and radiotherapy oncology every six months with magnetic resonance of the orbits. Two years after the end of treatment, the patient is disease-free. Conjunctiva rhabdomyosarcoma is a rare lesion, with few previously reported cases. In the reported case, the histopathological findings and positivity of the different immunohistochemical markers allowed a definitive diagnosis of rhabdomyosarcoma. The excellent prognosis of this pathology is probably linked to the early diagnosis of the disease and the timely administration of radical treatment. It is essential to be able to identify conjunctival rhabdomyosarcoma from its clinical and histopathological characteristics in order to achieve early diagnosis and provide adequate treatment to patients.

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

“…Moreover, rhabdomyosarcoma is the most common cancer of the orbit within the paediatric population, representing approximately 5% of all paediatric tumours [1,2]. Nevertheless, its origin from the conjunctiva is rare with only a few cases reported in the literature, primarily of young boys [1][2][3][4][5][6][7][8][9][10].…”

“…Furthermore, rhabdomyosarcoma appears to be more common in males with a roughly 5:3 male-female ratio [3]. However, primary conjunctival rhabdomyosarcomas are very rare, particularly in a female child, with only few cases reported in the literature [1‒10]. In this case report, we describe a unique case of primary conjunctival embryonal rhabdomyosarcoma, with no orbital extension in a young Caucasian girl.…”

“…A study looking at 264 orbital rhabdomyosarcoma cases showed 84% of cases classifying as embryonal subtype, 9% as alveolar, and 4% as undifferentiated [ 1 ]. Moreover, the embryonal subtype has a more favourable prognosis in terms of 10-year survival rates [ 9 ].…”

Genetics of congenital solid tumors

“…The most common location is in the head and neck (45%), especially orbits (30% of the total RMS in the head), followed by the neck, chest (40%) and limbs (20–25%). [ 74 ]. Due to the complex therapeutic modalities, the survival rate is currently over 70%, five years after diagnosis [ 75 ].…”