<i>HRPT2</i>gene analysis and the diagnosis of parathyroid carcinoma

Cetani, Filomena; Pardi, Elena; Banti, Chiara; Borsari, Simona; Ambrogini, Elena; Vignali, Edda; Cianferotti, Luisella; Viccica, Giuseppe; Pinchera, Aldo; Marcocci, Claudio

doi:10.1586/17446651.3.3.377

Cited by 4 publications

(5 citation statements)

References 54 publications

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“…P arathyroid carcinoma is a rare endocrine malignancy. It accounts for <1% of cases of sporadic primary hyperparathyroidism (PHPT) and is usually associated with more severe clinical manifestations than its much more common benign counterpart, parathyroid adenoma.

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Its course is typically indolent but progressive. The diagnosis of malignancy is often made only when local recurrence or metastases occur, because the histology of parathyroid tumors can be equivocal or frankly misleading.

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Most patients with recurrent disease ultimately succumb to the effects of hypercalcemia rather than to direct tumor invasion or distant metastases.…”

Section: Introductionmentioning

confidence: 99%

“…Clinical clues to the possibility of a parathyroid cancer, therefore, should lead the surgeon to an aggressive initial operative approach. In the last decade, greater knowledge of the molecular pathogenesis of parathyroid carcinoma has led to the development of diagnostic markers that show promise, particularly when the histology is ambiguous.

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Moreover, there is hope that greater understanding of the pathogenesis of parathyroid cancer will lead to the development of new therapeutic strategies for advanced, inoperable disease. This review focuses on the more recent advances in parathyroid carcinoma, particularly its molecular pathogenesis, diagnosis, and management.…”

Section: Introductionmentioning

confidence: 99%

“…It accounts for <1% of cases of sporadic primary hyperparathyroidism (PHPT) and is usually associated with more severe clinical manifestations than its much more common benign counterpart, parathyroid adenoma. ( 1 – 3 ) Its course is typically indolent but progressive. The diagnosis of malignancy is often made only when local recurrence or metastases occur, because the histology of parathyroid tumors can be equivocal or frankly misleading.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Parathyroid Carcinoma

Marcocci

Cetani

Rubin

et al. 2008

Journal of Bone and Mineral Research

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164

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^{(^{(1–3)})}

^{(^{(4)})}

Most patients with recurrent disease ultimately succumb to the effects of hypercalcemia rather than to direct tumor invasion or distant metastases.…”

Section: Introductionmentioning

confidence: 99%

^{(^{(2,3)})}

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Parathyroid Carcinoma

Marcocci

Cetani

Rubin

et al. 2008

Journal of Bone and Mineral Research

Self Cite

261

164

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“…Furthermore, hyperparathyroidism jaw tumor syndrome, an autosomal dominant form of familial hyperparathyroidism causes PC in 15% of patients (4,19). there is a strong association between PC and hyperparathyroidism (HrPt)2 mutations (20). there have also been reports of PC arising within an adenoma or hyperplastic gland in patients who have had external irradiation (21,22).…”

Section: Discussionmentioning

confidence: 99%

Papillary thyroid carcinoma associated with non‑functioning parathyroid carcinoma with Warthin's tumor of the parotid gland: A case report and brief literature review

Abdullah,

Qaradakhy,

Saeed

et al. 2023

Med Int

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Multiple neck pathologies occurring simultaneously are a rare condition. the present study describes an extremely rare case of papillary thyroid carcinoma, non-functioning parathyroid carcinoma (PC) and Warthin's tumor of the parotid gland. a 59-year-old male presented with a 3-month history of anterior neck swelling. the neck ultrasound revealed a left-sided thyroid nodule associated with pathological lymph nodes. There was a parotid gland mass. A fine-needle aspiration of the left parotid mass was not diagnostic, although the left thyroid nodule revealed a malignancy with metastasis to the left cervical group lymph nodes. the patient underwent total thyroidectomy, left central and left lateral cervical lymph node dissection. A superficial parotidectomy was also performed. a histopathological examination revealed three different pathologies: Papillary thyroid microcarcinoma, PC and Warthin's tumor. the simultaneous occurrence of a Warthin's tumor, papillary thyroid microcarcinoma and PC is an unusual condition. The concurrent findings of these three pathologies have not yet been reported in the literature, at least to the best of our knowledge. The synchronous findings of PtC, non-functioning PC and Warthin's tumor are extremely rare, yet possible. Surgical intervention remains the most appropriate treatment strategy.

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“…Parathyroid carcinoma is a rare malignancy, occurring in <1% to 5% of patients with primary hyperparathyroidism 1 – 3 . Parathyroid carcinoma is characterized by progressive refractory hypercalcemia and concomitant skeletal and renal diseases, resulting in a 5-year survival rate of 40–86% 1 , 4 .…”

Section: Introductionmentioning

confidence: 99%

Genomic and transcriptomic profiling reveal molecular characteristics of parathyroid carcinoma

Hong

Lee

et al. 2023

Exp Mol Med

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Genomic and transcriptomic profiling has enhanced the diagnostic and treatment options for many cancers. However, the molecular characteristics of parathyroid cancer remain largely unexplored, thereby limiting the development of new therapeutic interventions. Herein, we conducted genomic and transcriptomic sequencing of 50 parathyroid tissues (12 carcinomas, 28 adenomas, and 10 normal tissues) to investigate the intrinsic and comparative molecular features of parathyroid carcinoma. We confirmed multiple two-hit mutation patterns in cell division cycle 73 (CDC73) that converged to biallelic inactivation, calling into question the presence of a second hit in other genes. In addition, allele-specific repression of CDC73 in copies with germline-truncating variants suggested selective pressure prior to tumorigenesis. Transcriptomic analysis identified upregulation of the expression of E2F targets, KRAS and TNF-alpha signaling, and epithelial-mesenchymal transition pathways in carcinomas compared to adenomas and normal tissues. A molecular classification model based on carcinoma-specific genes clearly separated carcinomas from adenomas and normal tissues, the clinical utility of which was demonstrated in two patients with uncertain malignant potential. A deeper analysis of gene expression and functional prediction suggested that Wilms tumor 1 (WT1) is a potential biomarker for CDC73-mutant parathyroid carcinoma, which was further validated through immunohistochemistry. Overall, our study revealed the genomic and transcriptomic profiles of parathyroid carcinoma and may help direct future precision diagnostic and therapeutic improvements.

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HRPT2gene analysis and the diagnosis of parathyroid carcinoma

Cited by 4 publications

References 54 publications

Parathyroid Carcinoma

Parathyroid Carcinoma

Papillary thyroid carcinoma associated with non‑functioning parathyroid carcinoma with Warthin's tumor of the parotid gland: A case report and brief literature review

Genomic and transcriptomic profiling reveal molecular characteristics of parathyroid carcinoma

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