Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure

Mustapha El Lakis, Pavel Nockel, Bin Guan, Sunita Agarwal, James Welch, William F. Simonds, Stephen Marx, Yulong Li, Naris Nilubol, Dhaval Patel, Lily Yang, Roxanne Merkel, Electron Kebebew

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Background Hereditary primary hyperparathyroidism may be syndromic or nonsyndromic (familial isolated hyperparathyroidism). Recently, germline activating mutations in the GCM2 gene were identified in a subset of familial isolated hyperparathyroidism. This study examined the clinical and biochemical characteristics and the treatment outcomes of GCM2 mutation-positive familial isolated hyperparathyroidism as compared to sporadic primary hyperparathyroidism. Methods We performed a retrospective analysis of clinical features, parathyroid pathology, and operative outcomes in 18 patients with GCM2 germline mutations and 457 patients with sporadic primary hyperparathyroidism. Results Age at diagnosis, sex distribution, race/ethnicity, and preoperative serum calcium concentrations were similar between the 2 groups. The preoperative serum levels of intact parathyroid hormone was greater in patients with GCM2-associated primary hyperparathyroidism (239 ± 394 vs 136 ± 113, P =.005) as were rates of multigland disease and parathyroid carcinoma in the GCM2 group (78% vs 14.3%, P <.001 and 5% vs 0%, P =.04, respectively), but the biochemical cure rate was less in the GCM2 group (86% vs 99%, P <.001). Conclusion GCM2-associated primary hyperparathyroidism patients have greater preoperative parathyroid hormone levels, a greater rate of multigland disease, a lesser rate of biochemical cure, and a substantial risk of parathyroid carcinoma. Knowledge of these clinical characteristics could optimize the surgical management of GCM2-associated familial isolated hyperparathyroidism.

Original languageEnglish (US)
Pages (from-to)31-34
Number of pages4
JournalSurgery (United States)
Volume163
Issue number1
DOIs
StatePublished - Jan 2018

All Science Journal Classification (ASJC) codes

  • Surgery

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