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非侵入性产前检测导致一名30岁无症状急性髓系白血病患者的确诊:病例报告

Non-Invasive Prenatal Testing Leading to Detection of Asymptomatic Acute Myeloid Leukemia in a 30-Year-Old Patient: A Case Report.

作者信息

Willems Sterre P E, Stenstra Marianne, Jongen-Lavrencic Mojca, Westerhuis Michelle E M H, Beverloo H Berna, Vreugdenhil Gerard

机构信息

Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands.

Velthuis Kliniek, Eindhoven/Rotterdam, The Netherlands.

出版信息

J Hematol. 2021 Oct;10(5):228-231. doi: 10.14740/jh908. Epub 2021 Oct 31.

DOI:10.14740/jh908
PMID:34804313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8577591/
Abstract

The widely use of non-invasive prenatal testing (NIPT) may lead to accidental findings and the discovery of malignancy in pregnancy, often in asymptomatic patients. Diagnosis of such subclinical malignancy during pregnancy in the asymptomatic patient poses a predicament for both doctor and patient. The risks and benefits of possible treatment for both mother and child have to be weighted, and there is often limited scientific evidence available. We present a case of an abnormal NIPT result, leading to the diagnosis of acute myeloid leukemia (AML) in an asymptomatic pregnant patient. After multiple multidisciplinary meetings and an elaborate shared decision making (SDM) process, a watch and wait strategy was implemented, in contradiction with general treatment recommendations. Following this approach, it was possible to achieve a near term pregnancy before delivery of a healthy baby girl. The patient could subsequently commence treatment of her AML and is still in complete remission after a follow-up of 25 months. Our case report highlights the possibility of watch and wait strategy in selected cases and the importance of multidisciplinary collaboration and SDM, when faced with the accidental finding of AML through NIPT.

摘要

无创产前检测(NIPT)的广泛应用可能会导致意外发现以及孕期恶性肿瘤的检出,这类情况常见于无症状患者。在无症状患者孕期诊断出此类亚临床恶性肿瘤,给医生和患者都带来了困境。必须权衡对母婴进行可能治疗的风险和益处,而可用的科学证据往往有限。我们报告一例无创产前检测结果异常的病例,该病例导致一名无症状孕妇被诊断为急性髓系白血病(AML)。经过多次多学科会诊和精心的共同决策(SDM)过程,实施了观察等待策略,这与一般治疗建议相悖。采用这种方法,有可能在足月分娩一名健康女婴前实现近期妊娠。患者随后能够开始治疗其急性髓系白血病,在随访25个月后仍处于完全缓解状态。我们的病例报告强调了在特定病例中采用观察等待策略的可能性,以及在通过无创产前检测意外发现急性髓系白血病时多学科协作和共同决策的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d83/8577591/e4e1a24de951/jh-10-228-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d83/8577591/e4e1a24de951/jh-10-228-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d83/8577591/e4e1a24de951/jh-10-228-g001.jpg

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本文引用的文献

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Does time from diagnosis to treatment affect the prognosis of patients with newly diagnosed acute myeloid leukemia?从诊断到治疗的时间是否会影响新诊断为急性髓系白血病患者的预后?
Blood. 2020 Aug 13;136(7):823-830. doi: 10.1182/blood.2019004583.
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