Abstract
IntroductionAngiomyolipoma 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 presentationA 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.ConclusionConcurrent 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.
Highlights
Angiomyolipoma is a common benign renal tumor composed of thick-walled blood vessels, smooth muscle, and adipose tissue
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
Surgical intervention for angiomyolipomas should be avoided unless malignancy or renal cell carcinoma is suspected or to prevent spontaneous rupture of larger tumors
Summary
Recent studies have shown that polycythemia vera can be confirmed by the acquired somatic mutation JAK2 (V617F). This mutation is present in almost all patients with polycythemia vera, most patients with essential thrombocythemia and idiopathic myelofibrosis and in some patients with atypical myeloproliferative disorder. The JAK2 (V617F) point mutation test is sufficient for confirming the differential diagnosis of true polycythemia vera before surgery, and surgical intervention for angiomyolipoma should be evaluated cautiously [9]. In this patient, we provided EPO and EPO-R evaluation, which showed a reduction in levels that proved that the angiomyolipoma was not a direct source of erythrocytosis. A copy of the written consent is available for review by the Editor-in-Chief of this journal
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