Abstract Number: PB2180
Meeting: ISTH 2020 Congress
Background: Malignancy leading to a hypercoagulable state is a well established concept There is limited data on the influence of inherited thrombophilia on the occurrence of thrombosis in the pediatric solid tumors.
Aims: to correlate of the type of thrombophilia genetic mutations to the prevalence of thrombosis in pediatric solid tumors.
Methods: This study was carried out Hematology &Oncology unit of Pediatric Department of Zagazig University Hospital during the period from 2012 t0 2018., on fifteen pediatrics with solid tumors with thrombosis. All patients were subjected to full history and complete examination. The following CBC, PT, PTT and D Dimer were done. Radiology as Sonar, MRI as well as Doppler was done. Thrombophilia screening gene mutation was done for all patients, the Procedure includes single multiplex PCR for the amplification of a relevant sequence in the respective genes followed by reverse hybridization of biotinylated amplification products to oligonucleotides probes on the test strip . The assay covers the following 12 mutations: FV G1691A (Leiden) , FV H1299 R(R2), Prothrombin G20210A, Factor XIIIV34L,B-Fibrinogen- 455G>A,PAI-1 4G/5G,GPIII L33P (HPA-1),MTHFR C677T, MTHFRA1298C,ACEI/D, Apo B R3500Q, and Apo E22/E3/E4.
Results: The frequency of occurrence Wilms´ tumor in 6 cases (40%), neuroblastoma in 3 cases (20%), on Hodgkin´s lymphoma in 2 cases (13.3%) and 4 cases (26.7%) with other solid tumors. Out of fifteen cases, Deep Venous thrombosis were detected in 9 cases (60%), cerebral venous thrombosis [sinus] was in 3 cases (20%) , While portal vein thrombosis in 2 cases a (13.3%) and superior vena cava in 1 patients . Ten cases out of Fifteen cases of thrombosis revealed abnormal gene mutations in the heterozygous or homozygous form either in single gene or multiplex. Most frequent gene mutation was MTHFRA1298C in 6 cases.
Conclusions: Thrombophilia gene mutations may share in the pathogenesis of thrombosis in pediatric solid tumors.
To cite this abstract in AMA style:El Safy O, Fathy M, Osama A, Zakaria M, Fehr S, Raafat N. Thrombophilia Gene Screening in Pediatrics Solid Tumors with Thrombosis [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/thrombophilia-gene-screening-in-pediatrics-solid-tumors-with-thrombosis/. Accessed January 21, 2022.
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