Mutational Analysis of in Sporadic Parathyroid Adenomas

Context: The molecular pathogenesis of sporadic parathyroid adenomas is incompletely understood, with alterations in and most firmly established as genetic drivers. The gene encoding the X-linked zinc finger protein () has recently been implicated in the pathogenesis of a subset of parathyroid adenomas after recurrent, hotspot-focused somatic mutations were identified. escapes X inactivation and is transcribed from both alleles in women, and a highly homologous gene encoding the Y-linked zinc finger protein () provides dosage compensation in males.

Objective: We sought to investigate the role of mutation in sporadic parathyroid adenoma.

Intervention: Polymerase chain reaction and Sanger sequencing were used to examine DNA from typically presenting, sporadic (nonfamilial, nonsyndromic) parathyroid adenomas from male patients for mutations within the gene.

Results: No mutations were identified among 117 adenomas.

Conclusions: The absence of mutations in this series suggests that rarely, if ever, acts as a driver oncogene in sporadic parathyroid adenomas. The apparent differences in tumorigenic capabilities between the closely related zinc finger proteins ZFX and ZFY suggest that structure-function studies could represent an opportunity to gain insight into neoplastic processes in the parathyroid glands.