AUTHOR=Kim Ekaterina , Lavreniuk Anastasiia , Spasskaya Olga , Eremkina Anna , Salimkhanov Rustam , Urusova Liliya , Tarbaeva Natalia , Popov Sergey , Zakharova Victoria , Mokrysheva Natalia 

TITLE=Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes

JOURNAL=Frontiers in Oncology

VOLUME=Volume 14 - 2024

YEAR=2025

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2024.1441083

DOI=10.3389/fonc.2024.1441083

ISSN=2234-943X

ABSTRACT=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 MET and CDKN1C genes.