Sep 2026· Modern Pathology· pp.
101080
· 0 citations· 239 references
Medicine
TL;DR
Advances in genetic studies, tumor grading, and targeted therapy have improved diagnosis and management of medullary thyroid carcinoma and enhanced precision-based management and outcomes in advanced RET-mutated tumors.
Abstract
Advances in genetic studies, tumor grading, and targeted therapy have improved diagnosis and management of medullary thyroid carcinoma (MTC). This rare neuroendocrine neoplasm is linked to hereditary MEN2 syndromes driven by germline RET mutations, while sporadic tumors frequently harbor somatic RET or RAS alterations. The disease develops from proliferation of neoplastic C-cells. Histologically, MTC often demonstrates diverse morphologies; classic MTC features include nests of neuroendocrine cells associated with stromal amyloid. Immunohistochemical expression of calcitonin, CEA, chromogranin, and synaptophysin aid in diagnosis. Recently established grading criteria based on mitotic activity, Ki-67 proliferation index, and tumor necrosis have improved prognostic evaluation and risk stratification. Genetic sequencing and selective RET inhibitors have also enhanced precision-based management and outcomes in advanced RET-mutated tumors.
Medullary thyroid carcinoma (MTC) is a rare thyroid malignancy, representing approximately 2–5% of all thyroid cancers. It develops from the parafollicular C cells of the thyroid gland. Calcitonin, produced by parafollicular C cells, is a highly reliable biomarker for both diagnosis and disease monitoring. MTC commonly...
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Background/Objectives: Medullary thyroid cancer (MTC) is a rare but aggressive neuroendocrine malignancy arising from parafollicular C cells. Despite its low incidence, MTC has historically been estimated to account for 13.4% of thyroid cancer-related deaths. Survival outcomes remain limited in advanced disease, with a...
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