血管肉瘤
医学
突变
病理
癌症研究
内科学
生物
遗传学
基因
作者
Ankita Kapoor,Bei Yang,Parikshit Padhi
标识
DOI:10.1016/j.cpccr.2024.100279
摘要
Renal angiosarcomas are rare malignancies with approximately 70 published cases and comprise less than 1% of all kidney tumors. We present an elderly male who was found to have a large 10cm kidney mass and underwent a left radical nephrectomy. Pathology revealed a renal angiosarcoma and unfortunately 3 months later was found to have metastatic disease in the liver. He was incidentally found to have a JAK2 positive myeloproliferative neoplasm at the same time. Molecular testing on the angiosarcoma revealed a JAK2V617F mutation. He was treated with standard of care chemotherapy; initially with paclitaxel and then anthracyclines. He also received liverdirected therapy with Y90 with stable disease. He unfortunately passed away due to an unrelated illness. Our case highlights a rare type of kidney malignancy and that JAK2V617F is a potential driver mutation in angiosarcomas.
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