Malignant Mixed Tumor of the Skin With TRPS1::PLAG1 Fusion.
Shinichi Nakazato, Emi Takakuwa, Tomohiro Minagawa et al.
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Case in brief
The report describes a case of malignant mixed tumor of the skin (MMTS), a malignant cutaneous adnexal neoplasm arising through malignant transformation of a benign mixed tumor. Molecular analysis identified a TRPS1::PLAG1 fusion gene. The abstract does not provide the patient’s presentation, tumor site, histopathological details, treatment, or clinical outcome, so these cannot be summarized.
What made this case unusual
The tumor harbored a TRPS1::PLAG1 fusion; the authors identify this as the first documented MMTS case with this finding.
Diagnostic / clinical pearl
Molecular analysis can identify PLAG1 rearrangements in MMTS; this case demonstrates a TRPS1::PLAG1 fusion in the tumor.
Why it matters
The authors call for further MMTS cases with detailed molecular analysis, particularly examining PLAG1 rearrangement and overexpression.