Malignant MITF-Rearranged PEComa With Novel EEF1A1::MITF Fusion.
Sierra Raney, Arivarasan Karunamurthy, Jonhan Ho et al.
✦ AI-curated · Sources linked
Case in brief
A 45-year-old woman presented with a malignant superficial soft tissue neoplasm in the thigh, characterized by epithelioid to plump spindle cells with significant cytologic atypia and brisk mitotic activity. Immunohistochemical analysis revealed strong nuclear MITF expression, and molecular studies identified a novel EEF1A1::MITF fusion along with other genetic alterations. The tumor's atypical features and molecular profile contribute to the understanding of MITF-rearranged PEComas.
What made this case unusual
The identification of a novel EEF1A1::MITF fusion in this case highlights a unique molecular alteration not previously characterized in PEComas.
Diagnostic / clinical pearl
Clinicians should consider the possibility of MITF-rearranged PEComas in cases with atypical immunophenotypes and significant cytologic atypia.
Why it matters
This case underscores the need for further investigation into the molecular mechanisms driving PEComas, particularly those associated with MITF alterations.