: We report an exceptional case of a neoplasm with myoepithelial differentiation arising in the eyelid of a 50-year-old woman, representing the first documented instance of a HAS2::PLAG1 gene fusion in this anatomical location. The tumor exhibited a biphasic morphology with both spindle and epithelioid cell components and demonstrated aberrant immunohistochemical expression of ALK protein, although molecular analysis did not reveal any ALK gene rearrangements. This case underscores the importance of comprehensive molecular diagnostics in resolving immunophenotypic ambiguities and accurately classifying rare adnexal tumors.
Myoepithelial Neoplasm of the Eyelid Harboring a Novel HAS2::PLAG1 Fusion and Aberrant ALK Expression: A Case Report
Fortarezza, Francesco;Brambullo, Tito;Bassetto, Franco;Dei Tos, Angelo Paolo
2025
Abstract
: We report an exceptional case of a neoplasm with myoepithelial differentiation arising in the eyelid of a 50-year-old woman, representing the first documented instance of a HAS2::PLAG1 gene fusion in this anatomical location. The tumor exhibited a biphasic morphology with both spindle and epithelioid cell components and demonstrated aberrant immunohistochemical expression of ALK protein, although molecular analysis did not reveal any ALK gene rearrangements. This case underscores the importance of comprehensive molecular diagnostics in resolving immunophenotypic ambiguities and accurately classifying rare adnexal tumors.
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