Primary intrathyroidal paraganglioma: histopathology and novel molecular alterations

SummaryWe present the case of a 32-year-old woman with an intrathyroidal paraganglioma. Sequences of the nicotinamide NNMT (N-methyl transferase) gene at the PGL1 locus in intrathyroidal paraganglioma showed a heterozygous single nucleotide polymorphism and extragenic mutation. Also, sequences of the SDH (succinate dehydrogenase) gene subunits B, C, and D were examined and identified the presence of multiple homozygous and heterozygous single nucleotide polymorphisms. Our case confirms the presence of an increased number of single nucleotide polymorphisms and mutations in both PGL1 and SDH loci in intrathyroidal paraganglioma. To our knowledge, this is the first example of intrathyroidal paraganglioma to be so analyzed for both mutations and for single nucleotide polymorphisms in PGL1 and SDH loci. The presence of these genetic abnormalities may have therapeutic implications.