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SWI/SNF Complex-Deficient Carcinoma Arising in the Lacrimal Drainage System
Ansar A Wali1, Brent Hayek2, Ethan Hayek3
1Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.
A rare SWItch/Sucrose NonFermentable (SWI/SNF) complex-deficient carcinoma was found in the lacrimal drainage system and orbit. This highlights the need to consider SWI/SNF-deficient tumors in orbital mass differentials.
Area of Science:
- Oncology
- Pathology
- Ophthalmology
Background:
- SWItch/Sucrose NonFermentable (SWI/SNF) complex-deficient carcinomas are rare sinonasal tumors.
- Orbital and lacrimal drainage system involvement by these tumors is uncommon.
Purpose of the Study:
- To report a case of SWI/SNF complex-deficient carcinoma involving the lacrimal drainage system and orbit.
- To emphasize the importance of considering this rare entity in the differential diagnosis of orbital masses.
Main Methods:
- Case presentation of a 76-year-old male with persistent nasolacrimal duct obstruction.
- Imaging and surgical exploration revealing an orbital mass.
- Microscopic examination and immunohistochemical analysis (INI1 protein expression).
Main Results:
- A poorly differentiated carcinoma with in situ and invasive components was identified.
- Loss of INI1 protein expression in neoplastic cells confirmed SWI/SNF complex deficiency.
- Tumor involved the lacrimal sac, nasolacrimal duct, and orbit.
Conclusions:
- SWI/SNF complex-deficient carcinoma can arise in the lacrimal drainage system and invade the orbit.
- This diagnosis should be considered in the differential for orbital tumors, especially with lacrimal system involvement.
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