Gene identification of potential malignant parathyroid tumors phenotype in Chinese population

Zhao, Jinmin; Hu, Ya; Liao, Quan; Niu, Zheyu; Xing, Xiaoping; Xia, Weibo; Zhao, Yupei

doi:10.1507/endocrj.ej14-0023

Cited by 7 publications

(2 citation statements)

References 23 publications

(19 reference statements)

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“…While the etiology of parathyroid carcinoma remains largely unknown, it appears to be a complex interaction between environmental factors, causing sporadic alterations, and inherited genetic predispositions (1,2,8,28,41,55,73,85,100). Contrary to other solid tumors, a definite hyperplasia-adenoma-carcinoma progression sequence has not been established in parathyroid tissue (11,12,26,41,100,(123)(124)(125). The lack of convincing data is largely attributed to the extreme rarity of parathyroid carcinomas (1,11,33,73,123).…”

Section: Ancillary Biomarkersmentioning

confidence: 99%

Parathyroid carcinoma: diagnosis and clinical implications

Duan¹,

Mete²

2015

TJPATH

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Parathyroid carcinoma is a rare type of endocrine cancer, with significant morbidity and mortality associated with parathyroid hormone (PTH)-mediated hypercalcemia. Concerning clinical features for parathyroid cancer include severe hypercalcemia (albumin-corrected calcium > 3 mmol/L), a palpable neck mass ( > 3 cm), 3rd/2nd generation PTH assay ratio ( > 1), and intraoperative suspicion of local invasion or regional metastasis. A definite diagnosis of malignancy is rendered when a parathyroid tumor presents one of the following clinicopathological features: (1) vascular invasion, (2) perineural invasion, (3) gross invasion into adjacent anatomical structures, and/or (4) metastasis. In difficult cases, the use of ancillary biomarkers is critical to establish an accurate diagnosis. Recent advances in molecular pathology have uncovered the important role of CDC73/HRPT2, a tumor suppressor gene deregulated in parathyroid carcinomas. Loss of nuclear and/or nucleolar expression of parafibromin (the gene product of CDC73/HRPT2) is now regarded as a diagnostic, prognostic and predictive biomarker for parathyroid carcinoma. Furthermore, over 15-20% of seemingly sporadic parathyroid carcinomas have underlying germline CDC73/HRPT2 mutations. As a result, many centers have integrated the use of ancillary biomarkers, notably parafibromin staining, in their routine practise. Radical surgery with en bloc resection has emerged as a primary treatment modality in parathyroid cancer, achieving cure in some patients. However, in those with inoperable disease, there remains a dire need for new therapies, as current treatments are largely ineffective. This review provides an update on the current knowledge of parathyroid carcinoma and highlights its exciting changes in endocrine practice.

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Section: Ancillary Biomarkersmentioning

confidence: 99%

Parathyroid carcinoma: diagnosis and clinical implications

Duan¹,

Mete²

2015

TJPATH

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“…В исследовании J. Zhao и соавт. мутации генов CD24 (гликопротеин CD24), HMOX1 (heme oxygenase 1), VCAM1 (vascular cell adhesion molecule 1) и KCNA3 (potassium voltage-gated channel subfamily a member 3) являлись маркерами рака ОЩЖ [56].…”

Section: молекулярные особенности рака ощжunclassified

Main parathyroid tumors

et al. 2023

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Primary hyperparathyroidism is the third most common disease of the endocrine system. It is characterized by an increase in parathyroid hormone, hypercalcemia, hypercalciuria, hypophosphatemia. Symptoms include polyuria, bone pain, weakness, and constipation. In most cases, primary hyperparathyroidism is caused by solitary parathyroid adenoma — 85%. Other causes include hyperplasia (5%), multiple adenomas (<5%), and cancer (<1%). However, particular attention in this article is paid to two causes of primary hyperparathyroidism: parathyroid adenoma and cancer, as they are of high interest both from a molecular point of view and from the clinical features of these tumors. In addition, these tumors overlap in their symptoms and signs and the diagnosis is often made only after histological examination. In total, we identified 2700 articles, of which 66 met the inclusion criteria. The 66 included studies were topical for tumor lesions of the parathyroid gland. They were held between 1997 and 2022. This review emphasizes the importance of further research of the molecular features of these diseases and, possibly, targeted treatment options, since, for example, in cancer, even with R0 resection, the risk of recurrence is high. The article also focuses on the issues of the new World Health Organization 2022 classification of tumor lesions of the parathyroid gland, which is also important for a unified study of these tumors.

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