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Parathyroid carcinoma.
Salcuni AS, Cetani F, Guarnieri V, Nicastro V, Romagnoli E, de Martino D, Scillitani A, Cole DEC. Salcuni AS, et al. Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):877-889. doi: 10.1016/j.beem.2018.11.002. Epub 2018 Dec 1. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30551989 Review.
Somatic mutations of CDC73 gene, the same gene involved in the hyperparathyroidism-jaw tumor syndrome, can be identified in up to 70% of patients with PC and in one-third of cases the mutations are germline. ...The best chance of cure is the complete surgical resect …
Somatic mutations of CDC73 gene, the same gene involved in the hyperparathyroidism-jaw tumor syndrome, can be identified in up …
Parathyroid Tumors: Molecular Signatures.
Marini F, Giusti F, Iantomasi T, Brandi ML. Marini F, et al. Int J Mol Sci. 2021 Oct 18;22(20):11206. doi: 10.3390/ijms222011206. Int J Mol Sci. 2021. PMID: 34681865 Free PMC article. Review.
Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2-1.3% of cases) and malignant metastatic parathyroid c …
Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid ade …
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L, Stevenson M, Thakker RV. Cardoso L, et al. Hum Mutat. 2017 Dec;38(12):1621-1648. doi: 10.1002/humu.23337. Epub 2017 Sep 25. Hum Mutat. 2017. PMID: 28881068 Free PMC article. Review.
Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mecha …
Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple e …
Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Wasserman JD, Tomlinson GE, Druker H, Kamihara J, Kohlmann WK, Kratz CP, Nathanson KL, Pajtler KW, Parareda A, Rednam SP, States LJ, Villani A, Walsh MF, Zelley K, Schiffman JD. Wasserman JD, et al. Clin Cancer Res. 2017 Jul 1;23(13):e123-e132. doi: 10.1158/1078-0432.CCR-17-0548. Clin Cancer Res. 2017. PMID: 28674121 Free PMC article. Review.
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw …
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline pre …
Genetics of hereditary forms of primary hyperparathyroidism.
English KA, Lines KE, Thakker RV. English KA, et al. Hormones (Athens). 2024 Mar;23(1):3-14. doi: 10.1007/s42000-023-00508-9. Epub 2023 Dec 1. Hormones (Athens). 2024. PMID: 38038882 Free PMC article. Review.
The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyper …
The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor …
Para This, Fibromin That: The Role of CDC73 in Parathyroid Tumors and Familial Tumor Syndromes.
Ababneh E, Nosé V. Ababneh E, et al. Surg Pathol Clin. 2023 Mar;16(1):97-105. doi: 10.1016/j.path.2022.09.009. Epub 2022 Dec 9. Surg Pathol Clin. 2023. PMID: 36739170 Review.
CDC73 alterations are associated with three main parathyroid lesions according to the World Health Organization (WHO) classification of tumors of the endocrine system. These include hyperparathyroidism-jaw tumor (HPT-JT) syndrome-associated adenomas, atypical …
CDC73 alterations are associated with three main parathyroid lesions according to the World Health Organization (WHO) classification of t …
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM, Sima OC, Florescu AF, Ciuche A, Nistor C, Sandru F, Carsote M. Gheorghe AM, et al. Int J Mol Sci. 2024 Feb 15;25(4):2301. doi: 10.3390/ijms25042301. Int J Mol Sci. 2024. PMID: 38396977 Free PMC article. Review.
A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as well as hyperparathyroidism-jaw tumour syndrome (HJT). We aimed to summarise the recent data, thus …
A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neopl …
Atypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors.
Cetani F, Marcocci C, Torregrossa L, Pardi E. Cetani F, et al. Endocr Relat Cancer. 2019 Jul;26(7):R441-R464. doi: 10.1530/ERC-19-0135. Endocr Relat Cancer. 2019. PMID: 31085770 Review.
Atypical parathyroid adenomas represent a group of intermediate form of parathyroid neoplasms of uncertain malignant potential which show some atypical histological features that represent a challenge for the differential diagnosis with parathyroid carcinomas. They may occ …
Atypical parathyroid adenomas represent a group of intermediate form of parathyroid neoplasms of uncertain malignant potential which …
Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Garrigues G, Batisse-Lignier M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Kelly A, Gay-Bellile M, Viala S, Bidet Y, Bignon YJ, Cavaillé M. Garrigues G, et al. Mol Genet Genomic Med. 2023 May;11(5):e2133. doi: 10.1002/mgg3.2133. Epub 2023 Jan 14. Mol Genet Genomic Med. 2023. PMID: 36639964 Free PMC article. Review.
BACKGROUND: Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence <1/1000000, caused by a pathogenic variant in the CDC73 (or HRPT2) gene that encodes parafibromin, a protein involved in man …
BACKGROUND: Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is the rarest familial cause of primary hyperparathyroidism, with …
Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review.
Parfitt J, Harris M, Wright JM, Kalamchi S. Parfitt J, et al. J Oral Maxillofac Surg. 2015 Jan;73(1):194.e1-9. doi: 10.1016/j.joms.2014.09.008. Epub 2014 Sep 28. J Oral Maxillofac Surg. 2015. PMID: 25511968 Review.
Hyperparathyroidism-jaw tumor (HPT-JT) was first observed by Jackson in 1958 in a family who exhibited hyperparathyroidism and recurrent pancreatitis. The author noticed the presence of jaw tumors in the affected family and reported them as fibrous dys …
Hyperparathyroidism-jaw tumor (HPT-JT) was first observed by Jackson in 1958 in a family who exhibited hyperparathyroidism and …
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