Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes
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...
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| Format: | Article |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2024.1441083/full |
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| author | Ekaterina Kim Anastasiia Lavreniuk Olga Spasskaya Anna Eremkina Rustam Salimkhanov Liliya Urusova Natalia Tarbaeva Sergey Popov Victoria Zakharova Natalia Mokrysheva |
| author_facet | Ekaterina Kim Anastasiia Lavreniuk Olga Spasskaya Anna Eremkina Rustam Salimkhanov Liliya Urusova Natalia Tarbaeva Sergey Popov Victoria Zakharova Natalia Mokrysheva |
| author_sort | Ekaterina Kim |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-62e4b04049e64437bd6447f7fd05e797 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-62e4b04049e64437bd6447f7fd05e7972025-01-16T06:10:17ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-01-011410.3389/fonc.2024.14410831441083Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genesEkaterina Kim0Anastasiia Lavreniuk1Olga Spasskaya2Anna Eremkina3Rustam Salimkhanov4Liliya Urusova5Natalia Tarbaeva6Sergey Popov7Victoria Zakharova8Natalia Mokrysheva9Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, RussiaDepartment of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, RussiaDepartment of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, RussiaDepartment of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, RussiaDepartment of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, RussiaLaboratory of Pathomorphology, Endocrinology Research Center, Moscow, RussiaDepartment of Сomputed Tomography and Magnetic Resonance Imaging, Endocrinology Research Center, Moscow, RussiaLaboratory of General, Molecular and Population Genetics, Endocrinology Research Center, Moscow, RussiaLaboratory of General, Molecular and Population Genetics, Endocrinology Research Center, Moscow, RussiaAdministration, Endocrinology Research Center, Moscow, RussiaParathyroid 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.https://www.frontiersin.org/articles/10.3389/fonc.2024.1441083/fullprimary hyperparathyroidismparathyroid cancermetastaseshypercalcemiacase report |
| spellingShingle | Ekaterina Kim Anastasiia Lavreniuk Olga Spasskaya Anna Eremkina Rustam Salimkhanov Liliya Urusova Natalia Tarbaeva Sergey Popov Victoria Zakharova Natalia Mokrysheva Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes Frontiers in Oncology primary hyperparathyroidism parathyroid cancer metastases hypercalcemia case report |
| title | Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes |
| title_full | Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes |
| title_fullStr | Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes |
| title_full_unstemmed | Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes |
| title_short | Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in MET and CDKN1C genes |
| title_sort | case report relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in met and cdkn1c genes |
| topic | primary hyperparathyroidism parathyroid cancer metastases hypercalcemia case report |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2024.1441083/full |
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