Una causa rara de hipercalcemia: carcinoma sincrónico de dos paratiroides en el contexto del síndrome de hiperparatiroidismo familiar-tumor mandibular

Veiguela, Brenda; Isidro, Maria Luisa; Jorge, Segundo; Ruano, Belén

doi:10.1016/j.endonu.2010.04.002

Cited by 7 publications

(1 citation statement)

References 11 publications

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“…Numerous variants of the CDC73 gene have been associated with HJT, and novel ones are being identified; however, as already mentioned, the genotype-phenotype correlations remain an open matter, with various unknown and hidden issues, as proven over the years [93][94][95][96][97][98]. The highest odds of having a CDC73 pathogenic variant were found in subjects younger than 41.5 years [99].…”

Section: Cdc73: a Strong Player In The Game Of Hjtmentioning

confidence: 98%

Insights into Hyperparathyroidism–Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours

Gheorghe,

Sima,

Florescu

et al. 2024

IJMS

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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 raising more awareness regarding HJT, from the clinical perspective of PHP in association with the challenges and pitfalls of CDC73 genetic testing and parafibromin staining. This narrative review included a sample-focused analysis from the past decade according to a PubMed search. We identified 17 original human studies (≥4 patients per article). The mean age at disease onset was between 20.8 and 39.5 years, while the largest study found that 71% of patients had HJT recognised before the age of 30. Males and females seemed to be equally affected, in contrast with sporadic PHP. PHP represented the central manifestation of HJT, occurring as the first manifestation in up to 85% of HJT cases. A biochemistry panel found a mean serum calcium level above the level of 12 mg/dL in PHP. PTH was elevated in HJT as well, with average values of at least 236.6 pg/mL. The most frequent pathological type in PHP was a parathyroid adenoma, but the incidence of a parathyroid carcinoma was much higher than in non-HJT cases (15% of all parathyroid tumours), with the diagnosis being established between the age of 15 and 37.5. In some families up to 85% of carriers suffered from a parathyroid carcinoma thus indicating that certain CDC73 pathogenic variants may harbour a higher risk. An important issue in HJT was represented by the parafibromin profile in the parathyroid tumours since in HJT both parathyroid adenomas and carcinomas might display a deficient immunoreactivity. Another frequent manifestation in HJT was ossifying fibromas of the jaw (affecting 5.4% to 50% of patients; the largest study found a prevalence of 15.4%). HJT was associated with a wide variety of kidney lesion (mostly: kidney cysts, with a prevalence of up to 75%, and renal tumours involved in 19% of patients). The risk of uterine lesions seemed increased in HJT, especially with concern to leiomyomas, adenofibromas, and adenomyosis. The underlying pathogenic mechanisms and the involvement of CDC73 pathogenic variants and parafibromin expression are yet to be explored. Currently, the heterogeneous expression of parafibromin status and, the wide spectrum of CDC73 mutations including the variety of clinical presentations in HJT, make it difficult to predict the phenotype based on the genotype. The central role of HJT-PHP is, however, the main clinical element, while the elevated risk of parathyroid carcinoma requires a special awareness.

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Section: Cdc73: a Strong Player In The Game Of Hjtmentioning

confidence: 98%

Insights into Hyperparathyroidism–Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours

Gheorghe,

Sima,

Florescu

et al. 2024

IJMS

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Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

2017

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Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non‐syndromic) non‐hereditary (i.e., sporadic) endocrinopathy. 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 mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT‐JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas. Moreover, CDC73 germline mutations occur in 20%–40% of patients with sporadic PC and may reveal unrecognized HPT‐JT. This indicates that CDC73 mutations are major driver mutations in the etiology of PCs. However, there is no genotype–phenotype correlation and some CDC73 mutations (e.g., c.679_680insAG) have been reported in patients with sporadic PC, HPT‐JT, or FIHP. Other genes involved in sporadic PC include germline MEN1 and rearranged during transfection (RET) mutations and somatic alterations of the retinoblastoma 1 (RB1) and tumor protein P53 (TP53) genes, as well as epigenetic modifications including DNA methylation and histone modifications, and microRNA misregulation. This review summarizes the genetics and epigenetics of the familial syndromic and non‐syndromic (sporadic) forms of PC.

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Hyperparathyroidism-Jaw Tumor Syndrome

Iacobone

Martínez-Santos

Torresan

2021

Endocrine Surgery Comprehensive Board Exam Guide

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Una causa rara de hipercalcemia: carcinoma sincrónico de dos paratiroides en el contexto del síndrome de hiperparatiroidismo familiar-tumor mandibular

Cited by 7 publications

References 11 publications

Insights into Hyperparathyroidism–Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours

Insights into Hyperparathyroidism–Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

Hyperparathyroidism-Jaw Tumor Syndrome

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