Alveolar Rhabdomyosarcoma

A patient presented to BPEI for evaluation of a left upper lid lesion present since birth with no improvement with conservative treatment. Examination revealed a firm, blue, red lesion involving the upper left eyelid and lower eyelid. MRI orbit imaging revealed extensive superior and medial orbital involvement. Patient underwent frozen section and incisional biopsy, which revealed rhabdomyosarcoma with presumed embryonal subtype. Patient was started on low risk ARST chemotherapy. Patient continued to experience tumor growth until FOX1 mutational studies revealed alveolar subtype and treatment regimen was changed to high risk ARST chemotherapy and radiotherapy with good response. On surveillance MRI orbit imaging, a new mass involving the superomedial orbit was demonstrated. Biopsy and tumor debulking revealed recurrence of alveolar rhabdomyosarcoma. Salvage chemotherapy was instituted with continued growth of the tumor. The oncology clinical team decided to proceed with surgical exenteration for complete removal of the tumor. The surgical team utilized porcine urinary bladder acellular extracellular matrix to facilitate wound healing in the exenterated socket. The patient’s treatment course is documented in this presentation.

Presentation Date: 04/15/2021

Issue Date: 04/23/2021