Calcitonin-negative 'MTC-like' thyroid paraganglioma revealing an SDHD-related hereditary paraganglioma syndrome: functional confirmation of a non-canonical splice-site variant.
Grigoris Effraimidis, Varvara Trachana, Evmorfia G Tzagkaraki et al.
✦ AI-curated · Sources linked
Case in brief
A 36-year-old woman presented with a 20-mm thyroid nodule classified as EU-TIRADS 4 and Bethesda III, with normal serum calcitonin levels. Initial evaluations suggested a medullary thyroid carcinoma (MTC), but further histopathological review revealed characteristics of a thyroid paraganglioma (TPGL). Genetic testing confirmed an SDHD-related hereditary paraganglioma syndrome, identifying a splice-region variant in the family.
What made this case unusual
The case highlights a calcitonin-negative thyroid paraganglioma that mimicked medullary thyroid carcinoma, emphasizing the need for careful histopathological evaluation.
Diagnostic / clinical pearl
Clinicians should consider hereditary syndromes in patients with unusual thyroid tumors and ensure comprehensive family histories are obtained.
Why it matters
This case underscores the importance of specialist pathology review for atypical thyroid lesions to avoid misdiagnosis and inappropriate management.