ArticleSurgery2018
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.
Article in Surgery, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 49 citations in OpenAlex.
- Spatial transcriptomic analysis of mouse parathyroid gland cells expressing an activating variant ofJBMR plus · 2025Article
- Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.Updates in surgery · 2025Article
- Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025Review
- Progress report on multiple endocrine neoplasia type 1.Familial cancer · 2025Review
- Molecular Genetic Aspects of Sporadic Multiglandular Primary Hyperparathyroidism.Physiological research · 2023Review
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- [Special features of the diagnostics and treatment of hereditary primary hyperparathyroidism].Chirurgie (Heidelberg, Germany) · 2023Review
- A parathyroid cancer with soporous state, depression, and severe cognitive decline in acute renal failure.Clinical case reports · 2023Article
- Article
- Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort.Frontiers in endocrinology · 2023Article
- Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Review
- Genetics of monogenic disorders of calcium and bone metabolism.Clinical endocrinology · 2022Review
- Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.European journal of endocrinology · 2022Article
- Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.Frontiers in endocrinology · 2022Review
- Parathyroid carcinoma with sarcomatoid differentiation: a case report and literature review.Diagnostic pathology · 2020Review
- Review
- Approach to parathyroid carcinoma (PC): seven cases and a review of the literature.Translational cancer research · 2020Review
- Whole exome sequencing in familial isolated primary hyperparathyroidism.Journal of endocrinological investigation · 2020Article
- Pediatric Parathyroid Carcinoma: A Case Report and Review of the Literature.Journal of the Endocrine Society · 2019Review
Corrections and comments
- Commented on byDiscussion.2018
Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundHereditary 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.
methodsWe 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.
resultsAge 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).
conclusionGCM2-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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.