ArticleSurgery2014
Hyperparathyroidism-jaw tumor syndrome: Results of operative management.
Article in Surgery, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 87 citations in OpenAlex.
- Primary Hyperparathyroidism in the Pediatric Population: Surgical Considerations and Outcomes: A Narrative Review.Diagnostics (Basel, Switzerland) · 2026Review
- Challenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.Endocrinology, diabetes & metabolism case reports · 2025Article
- Hyperparathyroidism-Jaw Tumor Syndrome: A Rare Case Report and Literature Review.Clinical case reports · 2025Article
- 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
- 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
- A family case report of parathyroid carcinoma associated withFrontiers in endocrinology · 2024Article
- Parathyroid Retrospective Analysis of Neoplasms Incidence (pTRANI Study): An Italian Multicenter Study on Parathyroid Carcinoma and Atypical Parathyroid Tumour.Journal of clinical medicine · 2023Article
- Recurrent Primary Hyperparathyroidism in Hyperparathyroid Jaw Tumor Syndrome: A Case Report.Cureus · 2023Article
- Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.Molecular genetics & genomic medicine · 2023Review
- [Casuistic cases of parathyroid carcinoma with a verified mutation in theProblemy endokrinologii · 2023Article
- 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 contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.Endocrine · 2022Review
- Giant Parathyroid Tumor: Parathyroid Adenoma versus Parathyroid Carcinoma.Case reports in endocrinology · 2022Article
- Familial Hyperparathyroidism.Frontiers in endocrinology · 2021Review
- The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature.Case reports in endocrinology · 2021Article
- 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
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundHyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study was to determine the optimal operative approach to parathyroid disease in patients with HPT-JT.
methodsA retrospective analysis of clinical and genetic features, parathyroid operative outcomes, and disease outcomes in 7 unrelated HPT-JT families.
resultsSeven families had 5 distinct germline HRPT2/CDC73 mutations. Sixteen affected family members (median age, 30.7 years) were diagnosed with primary hyperparathyroidism (PHPT). Fifteen of the 16 patients underwent preoperative tumor localization studies and uncomplicated bilateral neck exploration at initial operation; all were in biochemical remission at most recent follow-up. Of these patients, 31% had multiglandular involvement; 37.5% of the patients developed parathyroid carcinoma (median overall survival, 8.9 years; median follow-up, 7.4 years). Long-term follow-up showed that 20% of patients had recurrent PHPT.
conclusionGiven the high risk of malignancy and multiglandular involvement in our cohort, we recommend bilateral neck exploration and en bloc resection of parathyroid tumors suspicious for cancer and life-long postoperative follow-up.
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