title: Prevalence of factor V Leiden, FII G20210A, FXIII Val34Leu and MTHFR C677T polymorphisms in cancer patients with and without venous thrombosis.
abstract: Venous thromboembolism (VTE) is a common complication in patients with malignant disease. In addition to well-established acquired risk factors for VTE, several genetic risk factors, mainly related to the haemostatic system, are known to influence thrombotic risk. However, the contribution of gene abnormalities to thrombotic tendency in cancer patients remains poorly explored. We performed a prospective study to evaluate the prevalence and clinical significance of four gene variations (factor V Leiden [FVL], factor II G20210A, factor XIII Val34Leu and MTHFR C677T) in cancer patients, with and without VTE. Enrolled were 211 unrelated and unselected patients (M/F ratio 0.5, mean age 57 years, range 12-91 years) with a diagnosis of cancer, admitted to two University Oncology Clinics in the city of São Paulo, Southeastern Brazil. After admission, all patients were evaluated for the presence of symptoms and signs of VTE. Sixty-four patients (30.3%) had an episode of deep venous thrombosis (DVT) or pulmonary embolism (PE), which has been objectively verified; 147 patients (69.7%) had no evidence of VTE. FVL was found with a frequency of 1.5% and 2.7% in the VTE and non-VTE group, respectively (odds ratio [OR] for VTE 0.6, 95% CI: 0.06-5.3). FII G20210A was found in 1.5% and 1.3% of thrombotic and nonthrombotic patients, respectively, yielding an OR of 1.2 (95% CI: 0.1-13.1). FXIII Val34Leu was detected in 29.6% of the thrombotic patients and in 28.5% of the non-thrombotic patients (OR 1.1, 95% CI: 0.5-2). MTHFR 677T was present in 53.1% and 60.5% of patients with and without thrombosis, respectively (OR 0.8, 95% CI: 0.4-1.4). The present data do not point to an association between the four polymorphisms here investigated and the risk of VTE in cancer patients.
authors.affiliation: Department of Vascular Surgery, School of Medicine, University of São Paulo, Rua Padre Vieira 326, Santo André, CEP 09070-720, São Paulo, Brazil. eramacciotti@yahoo.com
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ramacciotti
authors.forename: Nelson
authors.initials: N
authors.lastname: Wolosker
authors.forename: Pedro
authors.initials: P
authors.lastname: Puech-Leao
authors.forename: Eduardo Antônio
authors.initials: EA
authors.lastname: Zeratti
authors.forename: Paula Regina
authors.initials: PR
authors.lastname: Gusson
authors.forename: Auro
authors.initials: A
authors.lastname: del Giglio
authors.forename: Rendrik F
authors.initials: RF
authors.lastname: Franco
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005165:Factor V; D005176:Factor XIII / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009369:Neoplasms / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D016017:Odds Ratio; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011446:Prospective Studies; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D020246:Venous Thrombosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005176:Factor XIII; D042965:Methylenetetrahydrofolate Reductase (NADPH2)