Primary mucoepidermoid carcinoma of the thyroid with concomitant MAML2 gene rearrangement and BRAF V600E mutation – A case report

Abstract

Primary mucoepidermoid carcinoma of the thyroid (TMEC) is an exceedingly rare subtype of thyroid carcinoma. We report the case of a 76 year-old woman who presented with a large left neck mass and was subsequently diagnosed with mucoepidermoid carcinoma of the thyroid with lymph node and bone metastases. Although TMEC is generally regarded as a low-grade malignancy with favourable prognosis, a subset of cases such as ours pursue an aggressive course. To our knowledge, our case represents the fourth documented case of metastatic TMEC to bone as well as the first reported case of TMEC with concomitant MAML2 gene rearrangement and BRAF V600E mutation.

Keywords

• Mucoepidermoid carcinoma
• Thyroid
• TMEC
• Thyroid carcinoma
• MALM2
• BRAF V600E