Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management

Abstract

MEN1 genotyping appears worthwhile in FIHP families, as the finding of mutation(s) may predict multiglandular involvement and therefore have practical surgical implications, and prompt further investigation in the family, with the possibility of identifying new cases and beginning a programme of periodic surveillance for emergence of tumours in all carriers.

Familial and Hereditary Forms of Primary Hyperparathyroidism

“…126,130,131 This was supported by the observations of germline and somatic CDC73 mutations in HPT-JT-associated tumors. 130,131,[136][137][138] Similar germline and somatic CDC73 mutations have also been found in sporadic parathyroid carcinomas, and the frequency of such mutations is high, ranging from 67% to 100%; 138,139 however, the frequency of CDC73 mutations in sporadic parathyroid adenomas is low at 0 to 4%, indicating that CDC73 mutations likely confer an aggressive growth potential to the parathyroid cells. 130,136,[138][139][140] These studies indicate that CDC73 and its encoded protein, parafibromin, play a critical role in inherited and sporadic parathyroid cancers.…”

Italian Society of Endocrinology Consensus Statement: definition, evaluation and management of patients with mild primary hyperparathyroidism

“…Therefore, gene deletion analysis should be extended to all FIHP as well as HPT-JT patients without CDC73 mutations. Mutations in the MEN1 gene and, rarely, in the CASR gene may also occur in FIHP [36,37].…”

Surgical Management of Primary Hyperparathyroidism

“…However, some families with apparently isolated PHPT have germline mutations in MEN1, HRPT2, or CASR-the gene encoding the calcium-sensing receptor (CaSR). 87,88 If a specific mutation is identified, surgical management should be tailored to the underlying disease; otherwise, the surgical approach is the same as for sporadic PHPT.…”