Dataset Information

[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene].

ABSTRACT: Parathyroid cancer (PTC) is usually sporadic; however, it could be presented as a component of hereditary syndromes. The prevalence of PTC among patients with primary hyperparathyroidism (PHPT) is about 1% cases. The lack of reliable preoperative predictors significantly complicates the diagnosis of PTC. The clinical course is non-specific and in most cases is determined by severe hypercalcemia. The final diagnosis can only be made on the basis of invasive histopathologic features, while an analysis immunohistochemical (IHC) one can be used only as an additional method. Given the rarity the diagnosis of MEN1-related PTC a challenge. We present two clinical cases of patients with PTC and a verified heterozygous mutation in the MEN1 gene. The described cases demonstrate the complexity of morphological diagnosis for PTC, the heterogeneity of clinical manifestations in patients with the MEN1 mutation, as well as the need for timely screening to identify other components of MEN1 syndrome and mutations of the MEN1 gene among first-line relatives.

SUBMITTER: Pylina SV

PROVIDER: S-EPMC9978878 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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[Casuistic cases of parathyroid carcinoma with a verified mutation in the <i>MEN1</i> gene].

Pylina S V SV Kim E I EI Bondarenko E V EV Krupinova J A JA Eremkina A K AK Mokrysheva N G NG

Problemy endokrinologii 20230225 1

Parathyroid cancer (PTC) is usually sporadic; however, it could be presented as a component of hereditary syndromes. The prevalence of PTC among patients with primary hyperparathyroidism (PHPT) is about 1% cases. The lack of reliable preoperative predictors significantly complicates the diagnosis of PTC. The clinical course is non-specific and in most cases is determined by severe hypercalcemia. The final diagnosis can only be made on the basis of invasive histopathologic features, while an anal ...[more]

PMID: 36842074

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Project description:BackgroundParathyroid carcinoma (PC) is an extremely rare malignant tumor with an incidence of about 6 new cases per 10 million inhabitants per year. While several papers have been published on treatments and outcomes of PC patients with loco-regional disease, little is known about the prognosis, treatment strategies, and prognostic factors of patients with distant metastasis.Materials and methodsWe performed a systematic review and a pooled analysis of histopathologically confirmed PC cases published in literature using the following keywords: "metastasis-metastatic-secondary nodes" AND "parathyroid carcinoma". Original case reports and case series reporting metastatic parathyroid carcinoma were included. Data from 58 articles were extracted in a piloted form by five reviewers on a shared database.ResultsSeventy-nine patients with metastatic PC were identified between 1898 and 2018. Ten (13%) patients had synchronous metastases, while metachronous metastases occurred in 43 (54%) patients. The remaining 26 patients developed metastatic disease concomitantly to local recurrence. Primary hyperparathyroidism guided the diagnosis of metastatic recurrence in 58 (73%) patients. Surgery was the main primary approach adopted, as it was performed in 43 (54%) patients. Twenty (25%) patients underwent systemic antineoplastic therapy, consisting of chemotherapy, immunotherapy, tyrosine kinase inhibitors, and hexestrol therapy. Bone resorption inhibitors had a limited efficacy in the long-term control of hypercalcemia. After a median follow-up of 37.5 months, 43 (55%) patients died, 22 (51%) due to the consequences of uncontrolled PHPT. The median overall survival was 36 months (range: 1-252). Surgery was associated with a better OS (HR 0.48, 95% CI 0.26-0.88), whereas bone metastases represented a negative prognostic factor (HR 2.7, 95% CI 1.4-5.2).ConclusionMetastatic PC has a relatively poor prognosis. The main goals of treatment are to counteract tumor growth and control hypercalcemia. Surgery of metastases is the best approach to achieve rapid control of PHPT and longer survival. Target therapies and immunotherapy deserve to be extensively tested in metastatic PC and strategies to better control hypercalcemia should be implemented.

Dataset Information

[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene].

Publications

[Casuistic cases of parathyroid carcinoma with a verified mutation in the <i>MEN1</i> gene].

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