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分子遗传测序在急性髓系白血病和骨髓增生异常综合征患者管理中的临床应用及实际应用

Clinical utility and real-world application of molecular genetic sequencing in the management of patients with acute myeloid leukemia and myelodysplastic syndromes.

作者信息

Banaszak Lauren G, Reinig Erica, Lasarev Michael R, Mattison Ryan J

机构信息

Department of Medicine, University of Wisconsin-Madison, Madison, WI, USA.

Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, Madison, WI, USA.

出版信息

Leuk Lymphoma. 2022 Mar;63(3):684-693. doi: 10.1080/10428194.2021.1999435. Epub 2021 Dec 6.

DOI:10.1080/10428194.2021.1999435
PMID:34865601
Abstract

Recurrently mutated genes in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) have proven useful in risk stratification and clinical decision-making. Sequencing technologies that detect these genetic mutations are now widely available, though there is variability in the use of such data among hematologists. Molecular genetic sequencing trends were assessed in 470 patients presenting to a single institution with AML or MDS to determine how molecular data impacts clinical management of patients with myeloid malignancies. Patients with AML were more likely to have molecular genetic sequencing performed compared to patients with MDS, and clinicians were more likely to reference molecular data in decision-making for patients with AML. Furthermore, the presence of molecular data was associated with an increased odd of bone marrow transplantation (BMT). This study demonstrates the real-world application of molecular data in the management of myeloid malignancies and also highlights disparities in the use of such data based on diagnosis.

摘要

急性髓系白血病(AML)和骨髓增生异常综合征(MDS)中反复突变的基因已被证明在风险分层和临床决策中有用。检测这些基因突变的测序技术现已广泛应用,不过血液科医生在使用此类数据方面存在差异。对一家机构收治的470例AML或MDS患者的分子遗传测序趋势进行了评估,以确定分子数据如何影响髓系恶性肿瘤患者的临床管理。与MDS患者相比,AML患者更有可能进行分子遗传测序,临床医生在为AML患者做决策时更有可能参考分子数据。此外,分子数据的存在与骨髓移植(BMT)几率增加相关。这项研究证明了分子数据在髓系恶性肿瘤管理中的实际应用,也凸显了基于诊断在使用此类数据方面的差异。

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