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再生障碍性贫血和低危骨髓增生异常肿瘤的诊断与治疗

[Diagnosis and treatment of aplastic anemia and lower-risk myelodysplastic neoplasms].

作者信息

Suzuki Takahiro

机构信息

Department of Hematology, Kitasato University School of Medicine.

出版信息

Rinsho Ketsueki. 2024;65(9):884-891. doi: 10.11406/rinketsu.65.884.

Abstract

Myelodysplastic neoplasms (MDS) are clonal hematological malignancies arising from gene mutations. Immunosuppressive therapies (IST) are effective in lower-risk MDS (LR-MDS) with characteristics such as hypoplastic marrow with low blasts or low ring sideroblasts, and with a small increase of PNH clones or decrease of megakaryocytes. Differential diagnosis of these LR-MDS cases from AA can be difficult, and precise diagnosis requires careful evaluation of bone marrow cellularity and dysplasia. To decide on an appropriate treatment strategy for LR-MDS, it is important to evaluate the underlying pathology, and preferentially select IST as first-line therapy in patients with features that indicate immune-mediated bone marrow failure.

摘要

骨髓增生异常肿瘤(MDS)是由基因突变引起的克隆性血液系统恶性肿瘤。免疫抑制疗法(IST)对低危MDS(LR-MDS)有效,其特征包括骨髓发育不良伴原始细胞低或环形铁粒幼细胞低,以及阵发性睡眠性血红蛋白尿(PNH)克隆轻度增加或巨核细胞减少。将这些LR-MDS病例与再生障碍性贫血(AA)进行鉴别诊断可能具有挑战性,准确诊断需要仔细评估骨髓细胞密度和发育异常情况。为LR-MDS确定合适的治疗策略时,评估潜在病理情况很重要,对于具有免疫介导的骨髓衰竭特征的患者,应优先选择IST作为一线治疗。

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