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骨髓增殖性肿瘤患者中突变对妊娠结局的影响。

Impact of mutations on pregnancy outcome in patients with myeloproliferative neoplasms.

作者信息

Maze Dawn, Arusi Iyad, Gupta Vikas, Atenafu Eshetu G, Malinowski Ann Kinga, Shehata Nadine

机构信息

Elizabeth and Tony Comper MPN Program Princess Margaret Cancer Centre University of Toronto Toronto Ontario Canada.

Division of Hematology Mount Sinai Hospital Special Pregnancy Program University of Toronto Toronto Ontario Canada.

出版信息

EJHaem. 2022 Dec 7;4(1):241-245. doi: 10.1002/jha2.622. eCollection 2023 Feb.

DOI:10.1002/jha2.622
PMID:36819152
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9928794/
Abstract

The impact of driver and other somatic mutations on pregnancy outcomes is unknown. The purpose of this study was to report the management and outcome of pregnancies in a cohort of myeloproliferative neoplasms (MPN) patients, particularly to evaluate the impact of somatic mutations. The cohort included consecutive patients with MPN who had a least one confirmed pregnancy. The primary outcome was live births. Secondary outcomes were thrombotic and major bleeding events. Between 2010 and 2021, 29 pregnancies occurred in 24 individuals with MPN. Aspirin was used in 24 cases (83%) and interferon alfa in five (17%). There were 24 live births (83%). There were three thrombotic events, two antepartum and one postpartum. Miscarriages and thrombotic events occurred in JAK2-mutated and triple negative, but not CALR-mutated, MPN. Additional somatic mutations were rare, and there were no apparent associations with pregnancy loss or complications. While JAK2 V617F is associated with an increased risk of thrombosis, its impact on pregnancy outcome has been inconsistently reported. The association between triple negative MPN and adverse pregnancy outcome has not previously been reported. While limited by small numbers, this study underscores the importance of describing driver and other mutations to direct optimal antenatal care in individuals with MPN.

摘要

驱动基因突变和其他体细胞突变对妊娠结局的影响尚不清楚。本研究的目的是报告一组骨髓增殖性肿瘤(MPN)患者妊娠的管理情况和结局,特别是评估体细胞突变的影响。该队列包括连续的MPN患者,这些患者至少有一次确诊妊娠。主要结局是活产。次要结局是血栓形成和大出血事件。2010年至2021年期间,24例MPN患者发生了29次妊娠。24例(83%)使用了阿司匹林,5例(17%)使用了干扰素α。有24例活产(83%)。发生了3次血栓形成事件,2次产前和1次产后。流产和血栓形成事件发生在JAK2突变型和三阴性MPN患者中,但CALR突变型MPN患者未发生。额外的体细胞突变很少见,且与妊娠丢失或并发症无明显关联。虽然JAK2 V617F与血栓形成风险增加有关,但其对妊娠结局的影响报道不一。三阴性MPN与不良妊娠结局之间的关联此前尚未见报道。尽管本研究受样本量限制,但强调了描述驱动基因突变和其他突变以指导MPN患者最佳产前护理的重要性。

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