Parathyroid carcinoma (PC) is one of the rarest malignant neoplasms of the human endocrine system, with a prevalence of approximately 0.005% of all oncological diseases. Despite its indolent course, PC generally relapses in about 40%-60% of cases. The severity of the disease is usually determined by uncontrolled life-threatening hypercalcemia. Currently, there are no reliable criteria for preoperative diagnosis of PC; moreover, topical diagnosis and morphologic examination remain challenges. Surgery remains the gold standard for the treatment of both primary tumors and distant metastases. Other treatment options, such as chemotherapy or immunotherapy, are limited. Targeted therapy is considered a promising direction for disseminated tumors. We present a clinical case of a 70-year-old female patient with recurrent intrathyroidal PC and distant lung metastases, with novel variants in the and genes.
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http://dx.doi.org/10.3389/fonc.2024.1441083 | DOI Listing |
Front Oncol
January 2025
Administration, Endocrinology Research Center, Moscow, Russia.
Parathyroid carcinoma (PC) is one of the rarest malignant neoplasms of the human endocrine system, with a prevalence of approximately 0.005% of all oncological diseases. Despite its indolent course, PC generally relapses in about 40%-60% of cases.
View Article and Find Full Text PDFJ Endocr Soc
January 2025
Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, CT 06030-3101, USA.
Parathyroid carcinoma (PC) and atypical parathyroid tumors (APT) are incompletely understood and pose challenges in definitive diagnosis. sequence variants have recently been linked to PC and APT. Inactivating mutations in the ubiquitously expressed tumor suppressor gene, encoding folliculin, cause Birt-Hogg-Dubé syndrome (BHD), a rare tumor predisposition syndrome.
View Article and Find Full Text PDFArch Argent Pediatr
January 2025
Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.
Hyperparathyroidism is a rare entity in pediatrics. It is defined as the increased production of parathyroid hormone. It may be due to a primary defect of the parathyroid glands (primary hyperparathyroidism) or to a compensatory parathyroid hormone production to correct hypocalcemia states of various origins (secondary hyperparathyroidism).
View Article and Find Full Text PDFPheochromocytoma (PHEO) currently is considered to be malignant due to metastatic potential. One of the most common familial forms of PHEO is multiple endocrine neoplasia syndrome (MEN) type 2. The penetrance of PHEO in MEN2 syndrome is up to 50% of cases.
View Article and Find Full Text PDFJCEM Case Rep
February 2025
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama 222-0036, Japan.
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare hereditary disorder caused by pathogenic gene variants. We report the case of a patient with HPT-JT who carried a novel germline pathogenic variant. A 27-year-old woman presented with thirst, polyuria, fatigue, constipation, and a history of fibro-osseous mandible lesions and endometrial polyps.
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