Journal of Medical Case Reports
BioMed Central
Open Access
Case report
Polycythemia vera as a presentation of renal angiomyolipoma: a case report Ming-Shyan Lin1, Yu-Shin Hung2, Hsueh-Hua Wu1, Ming-Chung Kuo2, TzuFang Shiu1, Cheng-Keng Chuang3, Lee-Yung Shih2 and Pao-Hsien Chu*1 Address: 1Division of Cardiology, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan, 2Division of Hematology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan and 3Division of Urology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan Email: Ming-Shyan Lin -
[email protected]; Yu-Shin Hung -
[email protected]; Hsueh-Hua Wu -
[email protected]; Ming-Chung Kuo -
[email protected]; Tzu-Fang Shiu -
[email protected]; Cheng-Keng Chuang -
[email protected]; LeeYung Shih -
[email protected]; Pao-Hsien Chu* -
[email protected] * Corresponding author
Published: 31 October 2009 Journal of Medical Case Reports 2009, 3:90
doi:10.1186/1752-1947-3-90
Received: 16 April 2008 Accepted: 31 October 2009
This article is available from: http://www.jmedicalcasereports.com/content/3/1/90 © 2009 Lin et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract Introduction: 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. Case presentation: 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. Conclusion: 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.
Introduction Polycythemia vera is a rare presentation of renal angiomyolipoma [1]. Angiomyolipoma is a mixed mesenchymal tumor belonging to the family of perivascular epithelioid
cell tumors (PEComa). Renal angiomyolipoma can be found incidentally during workup for suspected renal disease and is one of the few lesions which can be specifically diagnosed by radiological findings. Although angiomyolPage 1 of 3 (page number not for citation purposes)
Journal of Medical Case Reports 2009, 3:90
ipoma may present as a palpable, tender renal mass with flank pain and gross or microscopic hematuria, many patients are asymptomatic. Moreover, the recent discovery of Janus kinase 2 (JAK2) V617F mutation in most patients with polycythemia vera opens new avenues for the treatment of this disease. This report describes a rare case of a woman diagnosed with renal angiomyolipoma and polycythemia vera and its differential diagnosis by erythropoietin (EPO), EPOreceptor (EPO-R) [1] and JAK2.
Case presentation This is a case report of a 79-year-old Chinese woman with a 5-year history of hypertension but no history of body weight loss, systemic diseases or smoking. She had suffered from palmer erythema and facial flushing associated with itching for several years, and had undergone phlebotomy for erythrocytosis several times before visiting our clinic. However, due to persistent leukocytosis (169,000/ μL, normal
