Abstract
Parathyroid carcinoma is a rare but clinically-aggressive tumor. While most cases are sporadic, parathyroid cancer is overrepresented in hyperparathyroidism-jaw tumor syndrome, or rarely other heritable syndromes. Evidence suggests that sporadic parathyroid carcinomas rarely, if ever, evolve through an identifiable benign tumor intermediate. A few genes have been directly implicated in the pathogenesis of sporadic parathyroid cancer; somatic (and less common germline) mutations in the CDC73 tumor suppressor gene are the most frequent finding and the only firmly established molecular drivers of parathyroid cancer. Alterations in other important human cancer genes, including CCND1/cyclin D1, PIK3CA, MTOR and PRUNE2 have also been described in parathyroid cancer, however their abilities to drive malignant parathyroid tumorigenesis remains to be demonstrated experimentally.
Highlights
Parathyroid cancer is a rare, but aggressive, cause of primary hyperparathyroidism, accounting for less than 1% of cases of this relatively common endocrine disorder
As the large majority of benign parathyroid tumors display normal parafibromin staining, parafibromin immunohistochemistry may be considered as a diagnostic adjunct for parathyroid cancer in otherwise equivocal cases[22,23,24] but aberrant parafibromin staining alone is insufficient as a diagnostic marker of parathyroid carcinoma[25]
A later study, which followed heterozygous CDC73 knockout mice out to 21 months, reported increased parathyroid proliferation and histologic abnormalities commonly observed in atypical parathyroid adenomas and parathyroid carcinomas in humans; frank features of parathyroid cancer, such as local invasion or distant metastasis were not described
Summary
Parathyroid cancer is a rare, but aggressive, cause of primary hyperparathyroidism, accounting for less than 1% of cases of this relatively common endocrine disorder. Genomic and genetic alterations common in benign parathyroid adenomas, most prominently loss of chromosome 11q and accompanying mutation of MEN1, which occur in 35% of parathyroid adenomas[2,3,4,5,6,7,8], are rarely, if ever, seen in parathyroid cancer[3,4,8,9]. In the setting of a germline parathyroid tumor-predisposing mutation, of CDC73, patients may occasionally develop parathyroid carcinomas that have evolved from preexisting benign or atypical adenomas.
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