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.