Parathyroid carcinoma as a challenging diagnosis: Report of three cases

Campennì, Alfredo; Ruggeri, Rosaria Maddalena; Sindoni, Alessandro; Giovinazzo, Salvatore; Calbo, L; Ieni, Antonio; Monaco, Maurizio; Tuccari, Giovanni; Benvenga, Salvatore; Baldari, Sergio

doi:10.14310/horm.2002.1367

Cited by 9 publications

(7 citation statements)

References 28 publications

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“…Cunha 1 and colleagues' data are in agreement previous ones [2][3][4] showing that clinical presentation of PC is highly variable and preoperative diagnosis difficult. Indeed, rare cases of nonfunctioning PC (i.e., without clinical and laboratory findings of Primary Hyperparathyroidism) and/or normal calcemia have been also reported further complicating the diagnostic approach.…”

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confidence: 86%

Early diagnosis of parathyroid carcinoma: A challenging for physicians

Campennì

Ruggeri

2022

Clinical Endocrinology

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Section: Dear Editorsupporting

confidence: 86%

Early diagnosis of parathyroid carcinoma: A challenging for physicians

Campennì

Ruggeri

2022

Clinical Endocrinology

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“…As long-term survival is largely dependent on the extent of the primary surgical resection, it is of great importance to consider parathyroid carcinoma in the differential diagnosis of hyperparathyroidism. While our series included patients with symptoms related to hyperparathyroidism and hypercalcemia, there is significant variability in clinical patterns of the disease, and others have described asymptomatic patients with parathyroid carcinoma without clinical or biochemical clues to the diagnosis (16).…”

Section: Discussionmentioning

confidence: 99%

The Clinicopathological Spectrum of Parathyroid Carcinoma

et al. 2019

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Background: Parathyroid carcinoma is rare, representing <1% of primary hyperparathyroidism cases.Methods: Retrospective data of patients referred for evaluation of parathyroid disease between 2001 and 2018 were reviewed. The goal was to describe the clinical presentation, histopathologic characteristics, and treatment outcomes of parathyroid carcinoma.Results: We identified 8 cases of parathyroid carcinoma from the outpatient practice of a quaternary care Endocrine Oncology practice in Toronto, Canada. The clinical presentation was as follows: 5/8 cases (62.5%) of symptomatic hypercalcemia and 3/8 cases (37.5%) of a suspicious thyroid nodule. Hypercalcemia was evident in all 7 cases with pre-operative calcium measurements. Histopathologic features included: vascular invasion in 7/8 cases (87.5%) and immunohistochemical loss of either parafibromin, retinoblastoma, or p27 in all 8 cases. Additional treatment included: external beam radiotherapy in 5/8 cases (62.5%), chemotherapy for 2/8 patients (25%), and additional surgery for 3/8 patients (37.5%). Only 2 patients (25%) had long-term remission following surgical treatment, and the others had either persistent (3 patients) or recurrent disease (3 patients). Five patients developed metastatic disease, all involving lung. In one of two patients treated with Sorafenib there was evidence of regression of lung metastases. One patient died of disease progression.Conclusion: In this series of patients with parathyroid carcinoma largely presenting with symptomatic hypercalcemia and angioinvasive disease, only a minority achieved a durable remission. Lung was the most common site of distant metastasis. Surgery led to remission in two cases, but none of the six patients with persistent or recurrent disease ultimately achieved disease remission.

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“…It is an indolent malignancy and its pre-surgical identification may frequently represent a challenge due the variability at the clinical presentation and the absence of pathognomonic signs such as metastases (10,11). PC may manifest sporadically or as part of HPT with jaw-tumor syndrome (HPT-JT, MIM145001), characterized by ossifying fibroma of the jaw and mandible, and renal and uterine lesions (12).…”

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confidence: 99%

Novel association of MEN1 gene mutations with parathyroid carcinoma

et al. 2017

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Inactivating mutations of the multiple endocrine neoplasia 1 (MEN1) gene cause MEN1 syndrome, characterized by primary hyperparathyroidism (pHPT), and parathyroid and gastro-entero-pancreatic pituitary tumors. At present, only 14 cases of malignant parathyroid tumor have been associated with the syndrome, with 6 cases carrying an inactivating mutation of the MEN1 gene. The present study presents the case of a 48-year-old female who presented with multigland pHPT and multiple pancreatic lesions. The patient underwent surgery several times for the excision of parathyroid hyperplasia, carcinoma and adenoma. The MEN1 gene was screened, revealing three variants (in cis) at the intron/exon 3 boundary (IVS2-3G>C, c.497A>T and c.499G>T) detected on the DNA of the proband, not shared by her relatives. RNA sequencing revealed that the IVS2-3C>G variant caused the skipping of the exon 3. Therefore, the present study reports on a novel rare association of MEN1 syndrome and parathyroid carcinoma. The reported splicing mutation was previously identified in subjects who always developed malignant lesions; thus, a possible genotype-phenotype association may be considered.

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Parathyroid carcinoma as a challenging diagnosis: Report of three cases

Cited by 9 publications

References 28 publications

Early diagnosis of parathyroid carcinoma: A challenging for physicians

Early diagnosis of parathyroid carcinoma: A challenging for physicians

The Clinicopathological Spectrum of Parathyroid Carcinoma

Novel association of MEN1 gene mutations with parathyroid carcinoma

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