Lin Ming-Shyan, Hung Yu-Shin, Wu Hsueh-Hua, Kuo Ming-Chung, Shiu Tzu-Fang, Chuang Cheng-Keng, Shih Lee-Yung, Chu Pao-Hsien
Division of Cardiology, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan.
J Med Case Rep. 2009 Oct 31;3:90. doi: 10.1186/1752-1947-3-90.
Angiomyolipoma is a common benign renal tumor composed of thick-walled blood vessels, smooth muscle, and adipose tissue. It may be found incidentally during workup for suspected renal disease. Although angiomyolipoma may present as a palpable, tender renal mass with flank pain and gross or microscopic hematuria, many patients are asymptomatic. Erythrocytosis is an unusual presentation, and malignant transformation may be suspected. This report describes a rare case of a woman diagnosed with renal angiomyolipoma and polycythemia vera. The report discusses the differential diagnosis using erythropoietin, erythropoietin-receptor and Janus kinase 2.
A 79-year-old Chinese woman was diagnosed with erythrocytosis according to World Health Organization criteria. An upper left renal pole angiomyolipoma was successfully ablated after multiple phlebotomy treatments. Red cell count immediately returned to normal, but gradually increased after 4 months. Polycythemia vera was finally diagnosed by positive mutation of Janus kinase 2 and negative erythropoietin protein expression. Her clinical symptoms improved with regular phlebotomy and hydroxyurea treatment.
Concurrent occurence of angiomyolipoma and polycythemia vera is rare. Polycythemia vera can be easily missed. Polycythemia vera can be confirmed with high specificity and sensitivity by the acquired somatic mutation. Surgical intervention for this renal tumor should be avoided unless malignancy or renal cell carcinoma is suspected or to prevent spontaneous rupture of larger tumors.
肾血管平滑肌脂肪瘤是一种常见的良性肾肿瘤，由厚壁血管、平滑肌和脂肪组织组成。它可能在对疑似肾脏疾病的检查过程中偶然发现。虽然肾血管平滑肌脂肪瘤可能表现为可触及的、压痛的肾肿块，伴有侧腹痛和肉眼或镜下血尿，但许多患者是无症状的。红细胞增多症是一种不寻常的表现，可能会怀疑有恶性转化。本报告描述了一例罕见的女性病例，该女性被诊断为肾血管平滑肌脂肪瘤和真性红细胞增多症。该报告讨论了使用促红细胞生成素、促红细胞生成素受体和Janus激酶2进行鉴别诊断的情况。
一名79岁的中国女性根据世界卫生组织标准被诊断为红细胞增多症。在多次放血治疗后，成功消融了左上肾极的血管平滑肌脂肪瘤。红细胞计数立即恢复正常，但4个月后逐渐升高。最终通过Janus激酶2的阳性突变和促红细胞生成素蛋白表达阴性诊断为真性红细胞增多症。通过定期放血和羟基脲治疗，她的临床症状得到改善。
肾血管平滑肌脂肪瘤和真性红细胞增多症同时发生很罕见。真性红细胞增多症很容易被漏诊。通过获得性体细胞突变可以高特异性和高敏感性地确诊真性红细胞增多症。除非怀疑有恶性肿瘤或肾细胞癌，或者为了防止较大肿瘤的自发破裂，否则应避免对这种肾肿瘤进行手术干预。
