Spindle Cell/Sclerosing Rhabdomyosarcoma of the Orbit

Ophthalmic Plast Reconstr Surg. 2023 Jan-Feb;39(1):e17-e20. doi: 10.1097/IOP.0000000000002252. Epub 2022 Jul 13.


A 3-year-old boy developed proptosis over 3 weeks. CT and MRI disclosed a 3.2 × 1.9 cm soft-tissue mass of the right extraconal and intraconal orbit with sphenoid bone erosion. After debulking through an upper eyelid crease incision, the tumor was diagnosed as a spindle cell/sclerosing rhabdomyosarcoma. DNA sequencing was negative for an L122R mutation in MyoD1 . Spindle cell/sclerosing rhabdomyosarcoma is an uncommon variant of this neoplasm, and only 2 patients with orbital tumors have been reported in 2 case series. Spindle cell/sclerosing rhabdomyosarcomas confined to the orbit are considered to have an excellent prognosis when treated with chemotherapy and radiation therapy. Diagnosis and treatment planning rely on histology, immunohistochemistry, and molecular analysis.

Trial registration: ClinicalTrials.gov NCT00075582.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Humans
  • Male
  • Mutation
  • Orbit / diagnostic imaging
  • Orbit / pathology
  • Orbital Neoplasms* / diagnosis
  • Orbital Neoplasms* / therapy
  • Rhabdomyosarcoma* / diagnosis
  • Rhabdomyosarcoma* / therapy

Supplementary concepts

  • Rhabdomyosarcoma of the orbit

Associated data

  • ClinicalTrials.gov/NCT00075582