RESUMEN
The aim of our study was to evaluate the possible effect of lipocalin 2 on thrombotic events in polycythemia vera and essential thrombocythemia patients. The samples of 89 patients were collected and RNA based method was used to evaluate the relative gene expression level of lipocalin 2. 74 samples were available for evaluation. Drawing a cut off point at level 30 relative expression rate, 13 patients with elevated lipocalin 2 expression had thrombotic events during the course of their disease. Based on these data high lipocalin 2 expression level seems to have strong positive predictive value on thrombotic events in patients with polycythemia vera and essential thrombocythemia. Lipocalin 2 may be useful in thrombotic risk stratification in these patients.
Asunto(s)
Lipocalina 2/análisis , Policitemia Vera/diagnóstico , Trombocitemia Esencial/diagnóstico , Trombosis/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Expresión Génica , Humanos , Lipocalina 2/genética , Masculino , Persona de Mediana Edad , Policitemia Vera/complicaciones , Valor Predictivo de las Pruebas , ARN Mensajero/análisis , Medición de Riesgo , Trombocitemia Esencial/complicaciones , Trombosis/etiología , Adulto JovenRESUMEN
The aims of this study were to estimate the prevalence of phaeochromocytomas among adrenal tumours and to analyse the clinical and biochemical features of sporadic and hereditary tumours. Our series of 609 adrenal tumours evaluated between January 1995 and July 2003 was reviewed. Catecholamine content in phaeochromocytoma tissues was also determined and correlated with clinical behaviour and biochemical parameters of patients. Forty-one (6.7%) of the 609 patients had phaeochromocytomas, of which 28 were sporadic (25 benign and three malignant) and 13 (all benign) were associated with hereditary diseases (multiple endocrine neoplasia type 2A in seven cases from four unrelated families carrying mutations of the RET gene, von Hippel-Lindau disease in two unrelated cases with mutations of the VHL gene, and type 1 neurofibromatosis in four unrelated cases). Bilateral tumours were found in three patients with hereditary syndromes and in one sporadic case. Tumour diameter was slightly but not significantly greater in patients with hereditary than in those with sporadic tumours. Systolic but not diastolic blood pressure was significantly higher in patients with sporadic compared with those with hereditary tumours, but comparison of other clinical data and biochemical parameters indicated an absence of significant differences in the mean age, presenting symptoms, heart rate, or fasting serum glucose levels. Tissue catecholamine content measured in 8 sporadic and 5 hereditary phaeochromocytomas was highly variable and it failed to show significant differences between hereditary and sporadic tumours. These results indicate a high proportion of hereditary diseases among patients with phaeochromocytomas. Genetic and clinical testing for hereditary diseases may be of great help to offer an appropriate treatment, follow-up and family screening for these patients.