| Presentation type | E-poster |
| Title | Diagnosis and Management of Atypical Lipomatous Tumor of the Orbit: A Case Report |
| Purpose | To describe the clinical course, diagnostic challenges, and management of an orbital atypical lipomatous tumor (ALT) presenting as a rare subconjunctival mass with severe proptosis and mass effect, with molecular features overlapping with atypical spindle cell/pleomorphic lipomatous tumor (ASPLT), particularly due to RB1 loss. |
| Methods | Clinical, imaging, histopathological, immunohistochemical, and molecular findings were reviewed. After years of diagnostic uncertainty and multiple biopsies, globe-conserving debulking provided tissue for definitive histopathological and molecular diagnosis. Reconstruction included contralateral conjunctival autograft and amniotic membrane transplant. |
| Results | Initial biopsy suggested low-fat spindle cell lipoma. Analysis of the debulking specimen revealed an atypical spindle-cell lipomatous neoplasm with CD34 positivity, RB1 loss, and MDM2/CDK4 amplification. Although RB1 loss suggested ASPLT, MDM2/CDK4 amplification excluded ASPLT and established ALT. After globe-conserving surgery, the patient achieved excellent functional and cosmetic outcomes. |
| Conclusion | This case illustrates the diagnostic and therapeutic challenges of lipomatous orbital neoplasms with atypical extensive disease. Molecular genetic analysis established ALT, identifying the uncommon combination of RB1 loss and MDM2 amplification and resolving the diagnostic challenge of ASPLT. Despite extensive orbital disease, globe-preserving debulking and ocular surface reconstruction achieved excellent anatomical and functional outcomes. This case emphasizes integrated molecular diagnostics and individualized surgical strategies for rare orbital tumors. |
| Conflict of interest | No |
| Last name | RUYSSCHAERT |
| Initials | E |
| Department | Ophthalmology, Ghent University Hospital |
| City | Ghent |
| Last name | Roels |
| Initials | D |
| Department | Ophthalmology, Ghent University Hospital |
| City | Ghent |
| Last name | Ninclaus |
| Initials | V |
| Department | Ophthalmology, Ghent University Hospital |
| City | Ghent |