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土耳其急性淋巴细胞白血病患儿的遗传性血栓前危险因素:合并基因突变的意义。

Inherited prothrombotic risk factors in Turkish children with acute lymphoblastic leukemia: significance of concomitant genetic mutation.

机构信息

Department of Pediatric Hematology, State Educational and Research Hospital of the Government, Kayseri, Turkey.

出版信息

Clin Appl Thromb Hemost. 2012 Mar-Apr;18(2):218-21. doi: 10.1177/1076029611412366. Epub 2011 Aug 25.

Abstract

Our study was designed to prospectively evaluate the role of the methylenetetrahydrofolate reductase (MTHFR) TT677 genotype, the prothrombin (PT) 620210A mutation, the factor V G1691A mutation in leukemic Turkish children treated according to modified BFM 95 study protocols with respect to the onset at thromboembolic events. Eighty-two consecutive leukemic children investigated had are established inherited prothrombotic risk factor: 29 children showed the MTHFR genotype (heterozygous, n = 22; homozygous, n = 7); 3 showed the heterozygous PT G20210A variant; 16 were carriers of the factor V mutation (heterozygous). In addition, combined prothrombotic defects were found in a further 11 patients the MTHFR mutation was combined with the F V mutation (n = 7), the PT G20210A variant (n = 2). In 7 (8.5%) of these 82 patients, venous thromboembolism occurred. In conclusion, the presence of inherited thrombophilia with Turkish children treated acute lymphoblastic leukemia may be useful for designing targeted primary prevention strategies.

摘要

我们的研究旨在前瞻性评估亚甲基四氢叶酸还原酶(MTHFR)TT677 基因型、凝血酶原(PT)620210A 突变、因子 V G1691A 突变在接受改良 BFM 95 研究方案治疗的土耳其白血病儿童中的作用,以了解其与血栓栓塞事件发生的相关性。对 82 例连续的白血病儿童进行了调查,这些儿童均存在已确定的遗传性血栓形成危险因素:29 例儿童表现出 MTHFR 基因型(杂合子,n=22;纯合子,n=7);3 例存在杂合性 PT G20210A 变体;16 例为因子 V 突变(杂合子)携带者。此外,在另外 11 例患者中还发现了联合性促血栓形成缺陷,即 MTHFR 突变与 F V 突变(n=7)、PT G20210A 变体(n=2)同时存在。在这 82 例患者中,有 7 例(8.5%)发生了静脉血栓栓塞。总之,在接受急性淋巴细胞白血病治疗的土耳其儿童中存在遗传性血栓形成倾向可能有助于制定有针对性的一级预防策略。

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