Orbital Rhabdomyosarcoma in a Pediatric Patient With Costello Syndrome.

Area of Science:

• Oncology
• Genetics
• Ophthalmology

Background:

• Costello Syndrome (CS) is a genetic disorder caused by HRAS gene mutations.
• CS patients are known to have an increased risk of developing rhabdomyosarcoma.
• Orbital rhabdomyosarcoma has not previously been reported in CS patients.

Purpose of the Study:

• To report the first case of orbital rhabdomyosarcoma in a patient with Costello Syndrome.
• To highlight the importance of vigilance for orbital tumors in CS patients.

Main Methods:

• Case report of an 18-month-old male with CS presenting with proptosis and orbital mass.
• Diagnostic imaging (CT scan) and histopathological examination confirmed embryonal rhabdomyosarcoma.
• Treatment involved chemotherapy (vincristine, dactinomycin, cyclophosphamide) and radiation therapy.

Main Results:

• The patient was diagnosed with left orbital embryonal rhabdomyosarcoma.
• The patient completed 8 cycles of chemotherapy and radiation therapy.
• Radiological surveillance for 12 months showed no evidence of recurrence or metastasis.

Conclusions:

• Orbital rhabdomyosarcoma can occur in patients with Costello Syndrome.
• Clinicians should maintain a high index of suspicion for orbital tumors in CS patients presenting with suggestive symptoms.
• Early diagnosis and multimodal treatment are crucial for managing orbital rhabdomyosarcoma in CS.