ArticleThe Journal of clinical endocrinology and metabolism2023
Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04969926 (Natural History Study of Parathyroid Disorders), which is not on this map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Natural History Study of Parathyroid Disorders
Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Parathyroid Carcinoma Revisited: Clinical and Pathological Insights From Two Decades of Experience.Clinical endocrinology · 2026Article
- Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas.Endocrine pathology · 2026Observational
- Genetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.International journal of molecular sciences · 2026Article
- Primary Hyperparathyroidism in Adults: Recent Developments in Diagnosis and Management.The Medical journal of Australia · 2026Review
- Hyperparathyroidism-Jaw Tumor Syndrome: A Case Diagnosed After the Removal of Multiple Ossifying Fibromas of the Jaws.JCEM case reports · 2025Article
- An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.Diseases (Basel, Switzerland) · 2025Review
- Genotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025Review
- A Novel PathogenicJCEM case reports · 2025Article
- Progress report on multiple endocrine neoplasia type 1.Familial cancer · 2025Review
- The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.Calcified tissue international · 2025Article
- Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.Case reports in endocrinology · 2025Article
- Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024Review
- Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis,International journal of molecular sciences · 2024Review
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
contextHyperparathyroidism-jaw tumor (HPT-JT) syndrome is a heritable form of primary hyperparathyroidism caused by germline inactivating mutations in CDC73 encoding parafibromin and is associated with an increased risk of parathyroid cancer. There is little evidence to guide the management of patients with the disease.
objective(1) Characterize the natural history of HPT-JT, (2) correlate genotype and histology of parathyroid tumors with parafibromin immunostaining, (3) understand molecular changes downstream to CDC73 loss.
designRetrospective study of patients with HPT-JT syndrome (genetically confirmed or affected first-degree relatives). Independent review of uterine tumor from 2 patients and staining for parafibromin on parathyroid tumors from 19 patients (13 adenomas, 6 carcinomas) was performed. RNA-sequencing was performed in 21 parathyroid samples (8 HPT-JT-related adenomas, 6 HPT-JT-related carcinomas, and 7 sporadic carcinomas with wild-type CDC73).
resultsWe identified 68 patients from 29 kindreds with HPT-JT with median age at last follow-up of 39 [interquartile range, 29-53] years. A total of 55/68 (81%) developed primary hyperparathyroidism; 17/55 (31%) had parathyroid carcinoma. Twelve of 32 (38%) females developed uterine tumors. Of the 11 patients who had surgical resection for uterine tumors, 12/24 (50%) tumors were rare mixed epithelial mesenchymal polypoid lesions. Four of 68 patients (6%) developed solid kidney tumors; 3/4 had a CDC73 variant at p.M1 residue. Parafibromin staining of parathyroid tumors did not correlate with tumor histology or genotype. RNA-sequencing showed a significant association of HPT-JT-related parathyroid tumors with transmembrane receptor protein tyrosine kinase signaling pathway, mesodermal commitment pathway, and cell-cell adhesion.
conclusionsMultiple, recurrent atypical adenomyomatous uterine polyps appear to be enriched in women with HPT-JT and appear characteristic of the disease. Patients with CDC73 variants at p.M1 residue appear predisposed to kidney tumors. CLINICAL TRIAL NUMBER: NCT04969926.
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