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病例报告:一名具有 和 基因新型变异的患者甲状腺内甲状旁腺癌复发。

Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in and genes.

作者信息

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

机构信息

Department of Parathyroid Pathology and Mineral Disorders, Endocrinology Research Center, Moscow, Russia.

Laboratory of Pathomorphology, Endocrinology Research Center, Moscow, Russia.

出版信息

Front Oncol. 2025 Jan 16;14:1441083. doi: 10.3389/fonc.2024.1441083. eCollection 2024.

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 and genes.

摘要

甲状旁腺癌(PC)是人类内分泌系统中最罕见的恶性肿瘤之一,在所有肿瘤性疾病中的患病率约为0.005%。尽管其病程进展缓慢,但PC通常在约40%-60%的病例中复发。该疾病的严重程度通常由危及生命的高钙血症失控所决定。目前,尚无可靠的PC术前诊断标准;此外,局部诊断和形态学检查仍然具有挑战性。手术仍然是原发性肿瘤和远处转移瘤治疗的金标准。其他治疗选择,如化疗或免疫治疗,较为有限。靶向治疗被认为是播散性肿瘤的一个有前景的方向。我们报告一例70岁女性复发性甲状腺内PC并伴有远处肺转移的临床病例,其 和 基因存在新的变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f02/11779720/aa9950f024d2/fonc-14-1441083-g001.jpg

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