Diagnosis, management, histology and genetics of sporadic primary hyperparathyroidism: old knowledge with new tricks

Mizamtsidi, Maria; Nastos, Constantinos; Mastorakos, George; Dina, Roberto; Vassiliou, Ioannis; Gazouli, Maria; Palazzo, Fausto

doi:10.1530/ec-17-0283

Cited by 39 publications

(47 citation statements)

References 86 publications

(170 reference statements)

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“…Primary hyperparathyroidism (PHPT) is the third most frequent endocrinopathy, after type 2 diabetes mellitus and thyroid disease. It is most commonly caused by an overactive parathyroid gland resulting in high serum parathormone (PTH) concentrations and consequent high serum calcium concentrations [1][2][3][4][5][6][7]. PHPT is nowadays commonly asymptomatic, with high prevalence among postmenopausal women (female-male ratio 3-4 :1) [8][9][10][11], routine serum calcium evaluation contributing to an increase in disease diagnosis [6].…”

Section: Introductionmentioning

confidence: 99%

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Shear Wave Elastography versus Strain Elastography in Diagnosing Parathyroid Adenomas

Cotoi

Amzar

Sporea

et al. 2020

International Journal of Endocrinology

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Objectives. e aim of the study was to compare elastographic means in parathyroid adenomas, using shear wave elastography and strain elastography. Methods. is prospective study examined 20 consecutive patients diagnosed with primary hyperparathyroidism and parathyroid adenoma, confirmed by biochemical assay, technetium-99 sestamibi scintigraphy, and pathology report, after parathyroid surgery. All patients were examined on conventional 2B ultrasound, 2D shear wave elastography, and strain elastography. We determined using 2D shear wave elastography (SWE) the elasticity index (EI) in parathyroid adenoma, thyroid parenchyma, and surrounding muscle and examined using strain elastography the parathyroid adenoma, and determined the strain ratio with the thyroid tissue and muscle tissue. Results. All patients had positive sestamibi scintigraphy and underwent surgery, with confirmation of parathyroid adenoma in all cases. e mean parathormone (PTH) value before surgery was 153.29 pg/ml (36.5, 464.8) and serum calcium concentration was 10.5 mg/dl (9, 11.5). We compared using 2D-SWE and strain elastography parathyroid adenoma with thyroid tissue and with surrounding muscle. e mean EI measured by SWE in parathyroid adenoma was 4.74 ± 2.74 kPa and in thyroid parenchyma was 11.718 ± 4.206 kPa (mean difference � 6.978 kPa, p < 0.001), and the mean EI value in muscle tissue was 16.362 ± 3.829 kPa (mean difference � 11.622, p < 0.001). Using ROC analysis, we found that an EI below 7 kPa correctly identifies parathyroid tissue. We evaluated parathyroid adenomas using strain elastography by color mapping and strain ratio as a semiquantitative measurement; however, we could not find any statistical correlation comparing the strain ratio obtained from the parathyroid adenoma with the thyroid tissue (p � 0.485). Conclusion. Ultrasound elastography is a helpful tool in identifying parathyroid adenomas. A cutoff value below 7 kPa can be used in 2D-SWE. Color maps in strain elastography without adding strain ratio can be used, parathyroid adenoma being identified as score 1 in the Rago criteria.

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Section: Introductionmentioning

confidence: 99%

“…e most common PHPT cause is unique parathyroid adenoma [12]. Sporadic parathyroid adenomas represent 85-90% of cases [3], a smaller percentage is accounted for multiglandular disease and less than 1% is due to parathyroid carcinoma [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

Shear Wave Elastography versus Strain Elastography in Diagnosing Parathyroid Adenomas

Cotoi

Amzar

Sporea

et al. 2020

International Journal of Endocrinology

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“…Knowing prior to parathyroidectomy surgery whether the patient has single or MGD is desirable. This most likely can be achieved with molecular and genetic criteria given the limitations of preoperative imaging and the fact that histological criteria remain controversial (15). In addition, recent literature has suggested the potential use of circulating miRNAs as diagnostic markers of malignancy (31).…”

Section: Resultsmentioning

confidence: 99%

“…These genes have been found to be involved in the pathogenesis of MGD but not in the development of in vivo 33: 1263-1269 (2019) 1266 (9,20). In addition, MGD tumorigenesis has been associated with other genetic pathways that affect cell cycle regulation (PCNA gene), apoptosis (TRAIL, FAS, BCL-2, MDM2, P53, TBXA2R, FHIT, PTGDS, EGFR genes) and growth factor regulation (VEGF, FGF, TGFβ, IGF-1 genes) (15). Hsa-miR-30e has been confirmed to target some of these genes according to multiple databases.…”

Section: Discussionmentioning

confidence: 99%

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Association Between hsa-miR-30e Polymorphisms and Sporadic Primary Hyperparathyroidism Risk

Mizamtsidi

Nastos

Palazzo

et al. 2019

In Vivo

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Background/Aim: Almost 15% of patients with sporadic primary hyperparathyroidism (sPHPT) present with multiple gland disease (MGD). The aim of this study was to investigate the potential role of two polymorphisms of the hsa-miR-30e, in sPHPT tumorigenesis. Patients and Methods: One-hundred twenty sPHPT patients, 77 presenting a single adenoma and 43 with MGD, and 54 healthy controls were genotyped. The SNPs were identified using the allelespecific PCR methodology, while the hsa-miR-30e expression was analyzed by real-time quantitative reverse transcriptase PCR. Results: Hsa-miR-30e expression was found to be significantly higher in patients with MGD compared to patients with single adenomas (p=0.0019), but no differences were found regarding specific genotype carriers. The genotype frequencies for ss178077483 and rs7556088 were significantly different between patients and healthy controls. Conclusion: Although the polymorphisms cannot be used as biomarkers for the differential diagnosis of MGD, hsa-miR-30e expression could potentially serve as a biomarker for this purpose.

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Multilevel Annotation of Germline MEN1 Variants of Synonymous, Nonsynonymous, and Uncertain Significance in Indian Patients With Sporadic Primary Hyperparathyroidism

Kaur

Bhadada

Santra

et al. 2020

Journal of Bone and Mineral Research

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Primary hyperparathyroidism (PHPT) is third most common endocrine disorder characterized by hypercalcemia with elevated or nonsuppressed parathyroid hormone levels by parathyroid tumors. Familial PHPT, as part of multiple endocrine type-1, occurs due to the germline mutation in the MEN1 gene. The involvement and the role of germline MEN1 variations in sporadic PHPT of Indian PHPT patients are unknown. Precise classifications of different types of MEN1 variations are fundamental for determining clinical relevance and diagnostic role. This prospective cohort study was performed on 82 patients with PHPT (with no clinical or history of MEN1) who underwent screening for MEN1 variations through Sanger sequencing. Multilevel computational analysis was performed to determine the structure-function relationship of synonymous, nonsynonymous, and variants of uncertain significance (VUS). Of the 82 PHPT patients, 42 (51%) had 26 germline MEN1 variants, including eight nonsynonymous, seven synonymous, nine VUS, one splice site, and one regulatory variation. Five most common germline variations (c.1838A>G, c.1817C>T, c.1525C>A, c.-35A>T, and c.250T>C) were observed in this study. c.-35A>T (5 0 untranslated region [UTR]) was associated with recurrence of PHPT (odds ratio [OR] = 5.4; p = 0.04) and subsequent detection of other endocrine tumors (OR = 13.6, p = 0.035). c.1525C>A was associated with multi glandular parathyroid tumor (OR = 13.6, p = 0.035). Align-Grantham variation and Grantham deviation (Align-GVGD), functional analysis through hidden Markov MODEL (FATHMM), and MutationTaster analysis reported the disease-specific potential of VUS and synonymous variations. Significant linkage disequilibrium was observed in c.1785G>A and c.1817C>T (r 2 = 0.3859, p = 0.0001), c.1475C>G and c.1525C>A (r 2 = 0.385, p = 0.0004), and c.1569T>C and c.1838A>G (r 2 = 0.488, p = 0.0001). The detection of MEN1 variations, especially those with disease-specific potential, can prompt early screening for other MEN1-related tumors and disease recurrence.

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Diagnosis, management, histology and genetics of sporadic primary hyperparathyroidism: old knowledge with new tricks

Cited by 39 publications

References 86 publications

Shear Wave Elastography versus Strain Elastography in Diagnosing Parathyroid Adenomas

Shear Wave Elastography versus Strain Elastography in Diagnosing Parathyroid Adenomas

Association Between hsa-miR-30e Polymorphisms and Sporadic Primary Hyperparathyroidism Risk

Multilevel Annotation of Germline MEN1 Variants of Synonymous, Nonsynonymous, and Uncertain Significance in Indian Patients With Sporadic Primary Hyperparathyroidism

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