Clinical and Molecular Genetics of Primary
                    Hyperparathyroidism

Simonds, William F.

doi:10.1055/a-1132-6223

Cited by 4 publications

(4 citation statements)

References 116 publications

(174 reference statements)

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“…About 5% of PHPT occurs in the familial setting. Patients usually present with multiglandular involvement with an equal or male sex predominance 4,5,7,52. It has been reported that up to 25% of parathyroid hyperplasia are a manifestation of a familial syndrome 6,7.…”

Section: Familial Hyperparathyroidismmentioning

confidence: 99%

“…Patients usually present with multiglandular involvement with an equal or male sex predominance. 4,5,7,52 It has been reported that up to 25% of parathyroid hyperplasia are a manifestation of a familial syndrome. 6,7 Familial forms of PHPT include multiple endocrine neoplasia (MEN1, MEN2, MEN4), familial hypocalciuric hypercalcemia 1, 2, and 3 (FHH1, FHH2, FHH3), familial hypercalciuric hypercalcemia, neonatal severe HPT, hyperparathyroidism jaw tumor syndrome (HP-JT) and familial isolated hyperparathyroidism (FIH).…”

Section: Familial Hyperparathyroidismmentioning

confidence: 99%

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Advances and Updates in Parathyroid Pathology

Gokozan

Scognamiglio

2022

Advances in Anatomic Pathology

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Hyperparathyroidism is a common endocrine disorder characterized by elevated levels of parathyroid hormone and hypercalcemia and is divided into 3 types: primary, secondary, and tertiary. Distinction between these types is accomplished by correlation of clinical, radiologic, and laboratory findings with pathologic features. Primary hyperparathyroidism occurs sporadically in 85% of cases with the remaining cases associated with multiple familial syndromes. The pathologic manifestations of primary hyperparathyroidism include parathyroid adenoma, parathyroid hyperplasia, and parathyroid carcinoma. Recent advances in the understanding of the pathogenesis of parathyroid disease has helped to refine the diagnosis and classification of parathyroid lesions. The identification of multiple clonal proliferations in traditional multiglandular parathyroid hyperplasia has led to the adoption by the World Health Organization (WHO) of the alternate term of primary hyperparathyroidism-related multiglandular parathyroid disease. Additional nomenclature changes include the adoption of the term atypical parathyroid tumor in lieu of atypical parathyroid adenoma to reflect the uncertain malignant potential of these neoplasms. Clinical and morphologic features characteristic of familial disease have been described that can help the practicing pathologist identify underlying familial disease and provide appropriate management. Use of ancillary immunohistochemistry and molecular studies can be helpful in classifying parathyroid neoplasms. Parafibromin has proven useful as a diagnostic and prognostic marker in atypical parathyroid tumors and parathyroid carcinomas. This review provides an update on the diagnosis and classification of parathyroid lesions considering the recent advances in the understanding of the molecular and clinical features of parathyroid disease and highlights the use of ancillary studies (immunohistochemical, and molecular) to refine the diagnosis of parathyroid lesions.

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Section: Familial Hyperparathyroidismmentioning

confidence: 99%

Section: Familial Hyperparathyroidismmentioning

confidence: 99%

Advances and Updates in Parathyroid Pathology

Gokozan

Scognamiglio

2022

Advances in Anatomic Pathology

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“…Secondarily, the co-presence of gastric, duodenal, and pancreatic neoplasia, in the majority of neuroendocrine tumors (NETs), represents a syndromic consequence via a common genetic background in multiple endocrine neoplasia (MEN) syndrome that comes with an increased burden of disease due to synchronous or asynchronous neoplasms requiring multidisciplinary management [ 11 , 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance

Carsote,

Nistor,

Gheorghe

et al. 2024

IJMS

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We aimed to provide an in-depth analysis with respect to three turning points in pancreas involvement in primary hyperparathyroidism (PHP): hypercalcemia-induced pancreatitis (HCa-P), MEN1 (multiple endocrine neoplasia)-related neuroendocrine tumors (NETs), and insulin resistance (IR). This was a comprehensive review conducted via a PubMed search between January 2020 and January 2024. HCa-P (n = 9 studies, N = 1375) involved as a starting point parathyroid NETs (n = 7) or pancreatitis (n = 2, N = 167). Case report-focused analysis (N = 27) showed five cases of pregnancy PHP-HCa-P and three reports of parathyroid carcinoma (female/male ratio of 2/1, ages of 34 in women, men of 56). MEN1-NET studies (n = 7) included MEN1-related insulinomas (n = 2) or MEN1-associated PHP (n = 2) or analyses of genetic profile (n = 3), for a total of 877 MEN1 subjects. In MEN1 insulinomas (N = 77), the rate of associated PHP was 78%. Recurrence after parathyroidectomy (N = 585 with PHP) was higher after less-than-subtotal versus subtotal parathyroidectomy (68% versus 45%, p < 0.001); re-do surgery was 26% depending on surgery for pancreatic NETs (found in 82% of PHP patients). MEN1 pathogenic variants in exon 10 represented an independent risk factor for PHP recurrence. A single pediatric study in MEN1 (N = 80) revealed the following: a PHP rate of 80% and pancreatic NET rate of 35% and 35 underlying germline MEN1 pathogenic variants (and 3/35 of them were newly detected). The co-occurrence of genetic anomalies included the following: CDC73 gene variant, glucokinase regulatory protein gene pathogenic variant (c.151C>T, p.Arg51*), and CAH-X syndrome. IR/metabolic feature-focused analysis identified (n = 10, N = 1010) a heterogeneous spectrum: approximately one-third of adults might have had prediabetes, almost half displayed some level of IR as reflected by HOMA-IR > 2.6, and serum calcium was positively correlated with HOMA-IR. Vitamin D deficiency was associated with a higher rate of metabolic syndrome (n = 1). Normocalcemic and mildly symptomatic hyperparathyroidism (n = 6, N = 193) was associated with a higher fasting glucose and some improvement after parathyroidectomy. This multilayer pancreas/parathyroid analysis highlighted a complex panel of connections from pathogenic factors, including biochemical, molecular, genetic, and metabolic factors, to a clinical multidisciplinary panel.

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“…This special issue has other important updates for us in endocrine oncology: on thyroid cancer [11] and hyperparathyroidism [12], medullary thyroid cancer [13], adrenal hyperplasias [14] and new technologies for the investigation of adrenocortical neoplasms [15], and finally on the medical treatment of gastrointestinal neuroendocrine neoplasms [16], a field that is maturing significantly, more than a century after secretin's discovery [5].…”

mentioning

confidence: 99%