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骨髓增生异常综合征的诊断与预后。

Diagnostics and Prognostication of Myelodysplastic Syndromes.

机构信息

Department of Oncology and Hematology, Blood Transfusion Service, Policlinico Gemelli Foundation, Catholic University of Sacred Heart, Rome, Italy.

出版信息

Ann Lab Med. 2017 Nov;37(6):465-474. doi: 10.3343/alm.2017.37.6.465.

Abstract

MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as 'founder' mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age. The diagnostic classification, now in use, is the one of the World Health Organization, revised in August 2016. It recognizes six distinct entities in addition to a provisional entity of childhood. In most of the cases, diagnosis is based on the morphologic quantitative and qualitative evaluation of the peripheral blood and bone marrow using basic hematological techniques. Bone marrow biopsy and flow cytometric immunophenotyping also offer support for further diagnostic elucidation, while cytogenetics and molecular genetics are presently fully integrated into prognostication, treatment processes, and decision-making.

摘要

骨髓增生异常综合征(MDS)是一组起源于造血干细胞的异质性和复杂性克隆性血液系统肿瘤,其特征为无效造血,导致骨髓和外周血细胞减少,涉及一个或多个谱系。在 MDS 的情况下,表观遗传变化被报道为“起始”突变。据报道,其在普通人群中的发病率为每 10 万人中有 5 例新的 MDS 诊断。男性比女性更容易受到影响,其发病率随年龄增长而增加。目前使用的诊断分类是世界卫生组织(WHO)于 2016 年 8 月修订的分类。除了儿童暂定实体外,它还识别出六个不同的实体。在大多数情况下,诊断是基于使用基本血液学技术对外周血和骨髓进行形态学定量和定性评估。骨髓活检和流式细胞术免疫表型分析也为进一步的诊断阐明提供支持,而细胞遗传学和分子遗传学目前已完全纳入预后、治疗过程和决策制定中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e941/5587818/bc56bc588d6b/alm-37-465-g001.jpg

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