Department of Hematology and Transfusion Medicine, Centro Hospitalar de Trás-os-Montes e Alto Douro.
School of Medicine and Biomedical Sciences - ICBAS, University of Porto.
Clin Appl Thromb Hemost. 2024 Jan-Dec;30:10760296241232864. doi: 10.1177/10760296241232864.
Although the relationship between venous thromboembolism (VTE) and cancer has been a subject of study, knowledge of the contribution of thrombophilia to thrombosis in patients with cancer is still very limited. The aim of this article is to collect present knowledge on the contribution of inherited thrombophilia to VTE in cancer patients. We performed a search in Google Scholar and PubMed and selected 21 from 76 returned articles. Then we made a narrative review of the selected articles. We describe 11 studies on the contribution of inherited thrombophilia to VTE in cancer patients in general and 10 on that contribution in specific types of cancer: 1 in colorectal cancer, 4 in breast cancer, 1 in gynecologic cancer and 4 in hematopoietic malignancies. All studies investigate the relation of factor V Leiden (FVL) to VTE, 13 that of the prothrombin G20210A mutation (PTG20210A) and 7 studies also investigate other inherited thrombophilias, such methylenetetrahydrofolate reductase gene mutations, although only 2 investigate the contribution of deficiencies of the natural anticoagulants. Studies are very heterogeneous, in design and sample size and conclusions differ considerably. There is no consensus on the contribution of inherited thrombophilia to VTE in cancer patients except for acute lymphoblastic leukemia in children. Probably, that contribution is not the same for all types of cancer and more studies are needed to bring more knowledge on this subject.
尽管静脉血栓栓塞症（VTE）与癌症之间的关系一直是研究的主题，但对遗传性血栓形成倾向在癌症患者血栓形成中的作用的认识仍然非常有限。本文的目的是收集目前关于遗传性血栓形成倾向对癌症患者 VTE 的贡献的知识。我们在 Google Scholar 和 PubMed 上进行了搜索，并从 76 篇返回的文章中选择了 21 篇。然后，我们对选定的文章进行了叙述性综述。我们描述了 11 项关于遗传性血栓形成倾向对一般癌症患者 VTE 的贡献的研究，以及 10 项关于特定类型癌症的研究：1 项关于结直肠癌，4 项关于乳腺癌，1 项关于妇科癌症，4 项关于血液恶性肿瘤。所有研究都调查了因子 V 莱顿突变（FVL）与 VTE 的关系，13 项研究了凝血酶原 G20210A 突变（PTG20210A）的关系，7 项研究还调查了其他遗传性血栓形成倾向，如亚甲基四氢叶酸还原酶基因突变，尽管只有 2 项研究调查了天然抗凝剂缺乏的贡献。研究非常多样化，在设计和样本量以及结论方面差异很大。除了儿童急性淋巴细胞白血病外，对于遗传性血栓形成倾向对癌症患者 VTE 的贡献，尚无共识。可能，这种贡献对于所有类型的癌症都不一样，需要更多的研究来增加对这一主题的了解。
