| Autor: |
Pylina SV; Endocrinology Research Center., Kim EI; Endocrinology Research Center., Bondarenko EV; Endocrinology Research Center., Krupinova JA; Endocrinology Research Center., Eremkina AK; Endocrinology Research Center., Mokrysheva NG; Endocrinology Research Center. |
| Jazyk: |
ruština |
| Zdroj: |
Problemy endokrinologii [Probl Endokrinol (Mosk)] 2023 Feb 25; Vol. 69 (1), pp. 15-27. Date of Electronic Publication: 2023 Feb 25. |
| DOI: |
10.14341/probl13176 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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