Primary hyperparathyroidism-Jaw tumor syndrome: a confusing and forgotten diagnosis

Piciu, Doina; Piciu, Andra; Bărbuş, Elena; Peștean, Claudiu; Larg, Maria Iulia; Fetică, Bogdan

doi:10.15386/cjmed-638

Cited by 8 publications

(7 citation statements)

References 14 publications

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“…In the case of incidental bone foci, this etiology may be considered as well as primary or secondary bone malignancies [105][106][107]. Diffuse and intense tracer uptake in the jaw may be observed in rare cases, being evocative of HPT-jaw tumor syndrome, a genetic disease linked with a negative prognosis [108][109][110].…”

Section: Reporting Parathyroid Radionuclide Imagingmentioning

confidence: 99%

The EANM practice guidelines for parathyroid imaging

Ovčariček

Giovanella

Gasset

et al. 2021

Eur J Nucl Med Mol Imaging

149

100

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Introduction Nuclear medicine parathyroid imaging is important in the identification of hyperfunctioning parathyroid glands in primary hyperparathyroidism (pHPT), but it may be also valuable before surgical treatment in secondary hyperparathyroidism (sHPT). Parathyroid radionuclide imaging with scintigraphy or positron emission tomography (PET) is a highly sensitive procedure for the assessment of the presence and number of hyperfunctioning parathyroid glands, located either at typical sites or ectopically. The treatment of pHPT is mostly directed toward minimally invasive parathyroidectomy, especially in cases with a single adenoma. In experienced hands, successful surgery depends mainly on the exact preoperative localization of one or more hyperfunctioning parathyroid adenomas. Failure to preoperatively identify the hyperfunctioning parathyroid gland challenges minimally invasive parathyroidectomy and might require bilateral open neck exploration. Methods Over a decade has now passed since the European Association of Nuclear Medicine (EANM) issued the first edition of the guideline on parathyroid imaging, and a number of new insights and techniques have been developed since. The aim of the present document is to provide state-of-the-art guidelines for nuclear medicine physicians performing parathyroid scintigraphy, single-photon emission computed tomography/computed tomography (SPECT/CT), positron emission tomography/computed tomography (PET/CT), and positron emission tomography/magnetic resonance imaging (PET/MRI) in patients with pHPT, as well as in those with sHPT. Conclusion These guidelines are written and authorized by the EANM to promote optimal parathyroid imaging. They will assist nuclear medicine physicians in the detection and correct localization of hyperfunctioning parathyroid lesions.

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Section: Reporting Parathyroid Radionuclide Imagingmentioning

confidence: 99%

The EANM practice guidelines for parathyroid imaging

Ovčariček

Giovanella

Gasset

et al. 2021

Eur J Nucl Med Mol Imaging

149

100

View full text Add to dashboard Cite

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“…Diagnosis of HPT-JT is important because of its genetic involvement and the 24% chance of malignant transformation (9,10). The nuclear medicine imaging -especially the scintigraphy parathyroid with 99m Tc-MIBI (methoxyisobutyl-isonitrile)-has an important role in establishing the diagnosis (11).…”

Section: Introductionmentioning

confidence: 99%

In silico analysis of CDC73 gene revealing 11 novel SNPs with possible association to Hyperparathyroidism-Jaw Tumor syndrome

Abdelmoneim¹,

Mohammed

Gadim³

et al. 2020

The EuroBiotech Journal

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Hyperparathyroidism-Jaw Tumor (HPT-JT) is an autosomal dominant disorder with variable expression, with an estimated prevalence of 6.7 per 1,000 population. Genetic testing for predisposing CDC73 (HRPT2) mutations has been an important clinical advance, aimed at early detection and/or treatment to prevent advanced disease. The aim of this study is to assess the most deleterious SNPs mutations on CDC73 gene and to predict their influence on the functional and structural levels using different bioinformatics tools. Method: Computational analysis using twelve different in-silico tools including SIFT, PROVEAN, PolyPhen-2, SNAP2, PhD-SNP, SNPs&GO, P-Mut, I-Mutant ,Project Hope, Chimera, COSMIC and dbSNP Short Genetic Variations were used to identify the impact of mutations in CDC73 gene that might be causing jaw tumor. Results: From (733) SNPs identified in the CDC73 gene we found that only Eleven SNPs (G49C, L63P, L64P, D90H, R222G, W231R, P360S, R441C, R441H, R504S and R504H) has deleterious effect on the function and structure of protein and expected to cause the syndrome. Conclusion: Eleven substantial genetic/molecular aberrations in CDC73 gene identified that could serve as diagnostic markers for hyperparathyroidism-jaw tumor (HPT-JT).

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“…[9, 10] The nuclear medicine imaging - especially the scintigraphy parathyroid with 99m Tc-MIBI (methoxyisobutyl-isonitrile)-has an important role in outlining the diagnosis. [11] It has been estimated that approximately 70% of patients affected by this mutation may develop PHPT. [12]…”

Section: Introductionmentioning

confidence: 99%

In silicoanalysis ofCDC73gene revealing 11 novel SNPs associated with Jaw Tumor Syndrome

Abdelmoneim¹,

Mohammed

Gadim³

et al. 2019

Preprint

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Back ground: hyperparathyroidism-jaw tumor (HPT-JT) is an autosomal dominant disorder with variable expression, with an estimated prevalence of 6.7 per 1,000 population. Genetic testing for predisposing CDC73 (HRPT2) mutations has been an important clinical advance, aimed at early detection and/or treatment to prevent advanced disease. The aim of this study is to assess the effect of SNPs on CDC73 structure and function using different bioinformatics tools. Method: Computational analysis using eight different in-silico tools including SIFT, PROVEAN, PolyPhen-2, SNAP2, PhD-SNP, SNPs&GO, PMut and Imutant were used to identify the impact on the structure and/or function of CDC73 gene that might be causing jaw tumour. Results: From (733) SNPs identified in the CDC73 gene we found that only Eleven were deleterious to the function and structure of protein and expected to cause syndrome.Conclusion: Eleven substantial genetic/molecular aberrations in CDC73 gene were identified that could serve as actionable targets for chemotherapeutic intervention in patients whose disease is no longer surgically curable.

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Primary hyperparathyroidism-Jaw tumor syndrome: a confusing and forgotten diagnosis

Cited by 8 publications

References 14 publications

The EANM practice guidelines for parathyroid imaging

The EANM practice guidelines for parathyroid imaging

In silico analysis of CDC73 gene revealing 11 novel SNPs with possible association to Hyperparathyroidism-Jaw Tumor syndrome

In silicoanalysis ofCDC73gene revealing 11 novel SNPs associated with Jaw Tumor Syndrome

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