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Am J Hematol ; 83(2): 155-8, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17696210

RESUMO

Mutation of the VHL tumor suppressor gene is a frequent genetic event in the carcinogenesis of renal-cell carcinoma (RCC). Circulating endothelial progenitor cells (EPCs) have important role in neoangiogenesis, and mobilization of these cells is induced by various growth factors including erythropoietin (EPO). With this regard, we analyzed a patient with EPO-producing clear-cell RCC and polycythemia. DNA extraction and sequencing analysis of the VHL gene were performed from the tumor and the adjacent normal renal tissue. Isolated and cultured circulating EPCs from the blood taken with phlebotomy were characterized by flow cytometry and immunofluorescence analysis. This RCC had two novel somatic mutations of the VHL gene, p.Leu128Pro and p.Asn131Lys. Culture of blood mononuclear cells revealed a strikingly high number of endothelial cell colonies derived from EPCs (nearly 10-fold more than in controls). Elevated number of circulating EPCs seems to be related to high EPO production from RCC with novel double somatic mutation of the VHL gene in this patient.


Assuntos
Carcinoma de Células Renais/genética , Eritropoetina/genética , Neoplasias Renais/genética , Mutação , Policitemia/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Idoso , Carcinoma de Células Renais/sangue , Carcinoma de Células Renais/complicações , Carcinoma de Células Renais/cirurgia , DNA de Neoplasias/genética , DNA de Neoplasias/isolamento & purificação , Endotélio Vascular/patologia , Humanos , Neoplasias Renais/sangue , Neoplasias Renais/complicações , Neoplasias Renais/cirurgia , Masculino , Nefrectomia , Policitemia/sangue , Policitemia/complicações , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Células-Tronco/citologia , Células-Tronco/patologia
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