Thyroid Myofibroma in a Child With Turner Syndrome: Integrated Cytologic, Histopathologic, and Molecular Characterization.
Irena Manukyan, Christopher T Rossi, Priya Vaidyanathan et al.
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Case in brief
A 9-year-old girl with Turner syndrome and a history of parotid myofibroblastic proliferation presented with a solitary thyroid nodule. Fine-needle aspiration showed a spindle-cell proliferation suspicious for an extrafollicular lesion. Lobectomy demonstrated a well-circumscribed, unencapsulated tumor of bland myofibroblastic cells in fascicles within collagenous stroma. Immunophenotyping supported myofibroma, and targeted molecular testing identified a pathogenic PDGFRB variant and a novel variant of uncertain significance. The findings established thyroid myofibroma.
What made this case unusual
The thyroid myofibroma occurred in a child with Turner syndrome who had previously had a parotid myofibroblastic proliferation; the abstract notes no prior reports of this combination.
Diagnostic / clinical pearl
A spindle-cell thyroid aspirate may represent an extrafollicular mesenchymal lesion rather than an epithelial nodule. Cytomorphology should be integrated with immunophenotyping and PDGFRB-focused molecular testing to support diagnosis.