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Large Renal Cell Carcinoma with Multiple Metastases Presenting as Low Back Pain

左側巨大之腎細胞癌併多處轉移以下背痛為初始表現

摘要


腎細胞癌是一個高致命性的泌尿系統惡性腫瘤,原因包含了早期疾病不易診斷以及晚期轉移性腎細胞對傳統化學治療、免疫治療及放射線治療有高度抗性。但近幾年對腎細胞癌的分子致病機轉有更透徹之了解,尤其是透明細胞型腎細胞癌具有VHL抑癌基因的異常,導致下游血管內皮生長因子等與血管新生有關的基因活化而造成腫瘤。針對上述與血管新生有關分子接受器之標靶治療,改善病人的預後,也改變了轉移性腎細胞癌之治療方式。我們報告一位年輕的女性被診斷出轉移性的腎細胞癌,但是初始的表現是下背痛,經過一系列檢查才發現有一個巨大的左側腎臟腫瘤以及多處肝和骨頭的轉移。這位病人使用口服標靶治療來控制病情,目前仍然在治療中。雖然腎細胞癌的治療進入了分子標靶的新時代,但還是有一些值得探討的課題,我們也回顧相關的一些文獻。

並列摘要


Renal cell carcinoma (RCC) is a highly lethal genitourinary malignancy due to infrequent early diagnosis, which responds poorly to conventional immune therapy, chemotherapy or radiotherapy in metastatic disease. There have been great advances in the understanding of the molecular mechanisms of RCC in recent years, especially with regards to dysfunction of the Von Hippel-Lindau tumor suppressor gene in clear cell type RCC. This dysfunction has been shown to result in the activation of downstream angiogenesis related genes such as vascular endothelial growth factor. Treatment targeting this molecular pathway has been shown to improve patient prognosis and has become the standard treatment for metastatic clear cell RCC. Herein, we report a case of advanced and metastatic RCC initially presenting as low-back pain, but without the typical symptoms. Physical, laboratory and imaging examinations revealed a large left kidney tumor and multiple metastases to the liver and bones. The patient received oral tyrosine kinase inhibitor target therapy with a good tumor response. Treatment of RCC has entered the era of molecular target therapy, however some issues still need to be addressed, such as the safety issue of tyrosine kinase inhibitor and role of cytoreductive surgery. We also review related articles and have some discussion.

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