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The article describes two clinical cases of severe primary hyperparathyroidism (PHPT) caused by parathyroid carcinoma in young female patients who underwent molecular genetic testing to rule out the hereditary forms of PHPT. In both patients, heterozygous germline nonsense mutations of tumor suppressor gene CDC73 encoding parafibromin (p.R91X and p.Q166X) were identified using next-generation sequencing with Ion Torrent Personal Genome Machine (Thermo Fisher Scientific - Life Technologies, USA). It is the first description of CDC73 mutations in Russia, one of the mutations is described for the first time in the world. Identification of germline mutations in the CDC73 gene in patients with PHPT necessitates regular lifelong screening for other manifestations of hyperparathyroidism-jaw tumor syndrome (HPT-JT), PHPT recurrence due to parathyroid carcinoma as well, and identification of mutation carriers among first-degree relatives.

A description of a very rare malignant tumor, cancer of the parathyroid gland which developed in adenoma of this gland is presented. The histological study of the tumor revealed an adenoma of the trabecular structure consisting mostly of dark oxyphilic cells. In its turn, an area of trabecular cancer was found in the adenoma. Complexes of cancer cells infiltrated the adenomal tissue in some sites, but never grew through its capsule. The tumor was hormonally active like most cancers of the parathyroid gland. A particular feature of this case is the development of cancer in adenoma of the parathyroid gland which did not grow beyond the adenoma and produced no metastases.