ArticleLangenbeck's archives of surgery2009
Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.
Article in Langenbeck's archives of surgery, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 94 citations in OpenAlex.
- Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report.Radiology case reports · 2026Article
- Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024Review
- Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum ofInternational journal of molecular sciences · 2024Review
- Combination approach forTherapeutic advances in medical oncology · 2024Article
- Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.The Journal of clinical endocrinology and metabolism · 2023Article
- Molecular and Clinical Spectrum of Primary Hyperparathyroidism.Endocrine reviews · 2023Article
- [Case of clinically "aggressive" course of primary hyperparathyroidism, algorithm of differential diagnosis].Problemy endokrinologii · 2022Article
- Overview of the 2022 WHO Classification of Parathyroid Tumors.Endocrine pathology · 2022Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.Endocrine · 2021Article
- [The clinical practice guidelines for primary hyperparathyroidism, short version].Problemy endokrinologii · 2021Review
- Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice.Endocrine pathology · 2021Review
- The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature.Case reports in endocrinology · 2021Article
- Ossifying fibroma of the jaw bones in hyperparathyroidism-jaw tumor syndrome: Analysis of 24 cases retrieved from literatures.Journal of dental sciences · 2020Article
- Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.Hormones & cancer · 2020Article
- Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing.Endocrine pathology · 2020Review
- Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.World journal of surgery · 2020Article
- Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature.International journal of endocrinology · 2019Review
- Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features.The American journal of surgical pathology · 2019Article
- Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Human mutation · 2017Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal disease caused by inactivating germ-line mutations of HRPT2 gene, with subsequent loss of Parafibromin expression. It is characterized by familial HPT, ossifying jaw tumors, and other associated neoplasms.
methodsClinical, histopathological, and genetic features of three large Italian unrelated HPT-JT kindred were assessed.
resultsThree different germ-line HRPT2 inactivating mutations were identified. Seventeen affected members and six healthy mutation carriers were found. HPT was diagnosed in virtually all affected patients, at a median age of 36.3 years (range 11-71). In all cases, a single parathyroid involvement was found at surgery, although a metachronous multiglandular involvement causing recurrence after selective parathyroidectomy occurred in 17.6% of cases, after a mean disease-free interval of 13.7 years (range 5-27). Parathyroid carcinoma, atypical parathyroid adenoma, and jaw tumor occurred in one case; uterine involvement in 61.5% of women; other associated neoplasms were thyroid carcinoma (two cases) and renal and colon carcinoma (one case). Immunohistochemistry confirmed the loss of Parafibromin as the distinctive feature of the disease both in parathyroid and uterine tumors.
conclusionsHPT-JT has a frequent single-gland parathyroid involvement and a relatively increased risk of parathyroid carcinoma. The penetrance of the disease is high but incomplete. Regardless of the denomination of the syndrome, jaw tumors occur rarely, while uterine involvement is frequently present. Selective parathyroidectomy may be an effective strategy, but a prolonged follow-up is required because of the risk of recurrences and malignancies. A systematic investigation is also required because of associated malignancies.
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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.