ABSTRACT
In children, the diagnosis of parathyroid cancer is challenging and requires a multidisciplinary team evaluation with integration of all available data including clinical presentation, laboratory data, imaging, genetic testing, surgical evaluation, and histologic findings. Initial risk assessment for parathyroid malignancy in adults is based on the severity of clinical presentation. Genetic testing is an essential tool in the diagnosis of pediatric parathyroid cancer. In particular, germline mutations and deletions in the transcription factor CDC73 have been implicated in a spectrum of phenotypes, ranging from sporadic cases of parathyroid adenoma and carcinoma to Mendelian diseases such as hyperparathyroidism-jaw tumor syndrome and familial isolated hyperparathyroidism. Parathyroid carcinoma has classically been described as having lobular architecture separated by fibrous bands, cytonuclear atypia, and mitoses, but these findings can be seen in benign disease as well. Vascular and capsular invasion are highly suggestive, but malignancy can only be confirmed by the presence or development of metastases.
