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分子诊断时代骨髓增生异常疾病的形态学细微差别

Nuances of Morphology in Myelodysplastic Diseases in the Age of Molecular Diagnostics.

作者信息

Shaver Aaron C, Seegmiller Adam C

机构信息

Department of Pathology, Microbiology, and Immunology, Vanderbilt University School of Medicine, 4605A TVC, 1301 Medical Center Dr., Nashville, TN, 37232, USA.

出版信息

Curr Hematol Malig Rep. 2017 Oct;12(5):448-454. doi: 10.1007/s11899-017-0405-y.

Abstract

Morphologic dysplasia is an important factor in diagnosis of myelodysplastic syndrome (MDS). However, the role of dysplasia is changing as new molecular genetic and genomic technologies take a more prominent place in diagnosis. This review discusses the role of morphology in the diagnosis of MDS and its interactions with cytogenetic and molecular testing. Recent changes in diagnostic criteria have attempted to standardize approaches to morphologic diagnosis of MDS, recognizing significant inter-observer variability in assessment of dysplasia. Definitive correlates between cytogenetic/molecular and morphologic findings have been described in only a small set of cases. However, these genetic and morphologic tools do play a complementary role in the diagnosis of both MDS and other myeloid neoplasms. Diagnosis of MDS requires a multi-factorial approach, utilizing both traditional morphologic as well as newer molecular genetic techniques. Understanding these tools, and the interplay between them, is crucial in the modern diagnosis of myeloid neoplasms.

摘要

形态学发育异常是骨髓增生异常综合征(MDS)诊断中的一个重要因素。然而,随着新的分子遗传学和基因组技术在诊断中占据更突出的地位,发育异常的作用正在发生变化。本文综述了形态学在MDS诊断中的作用及其与细胞遗传学和分子检测的相互作用。近期诊断标准的变化试图规范MDS形态学诊断方法,认识到在发育异常评估中观察者间存在显著差异。仅在一小部分病例中描述了细胞遗传学/分子学与形态学结果之间的确切关联。然而,这些遗传学和形态学工具在MDS及其他髓系肿瘤的诊断中确实发挥着互补作用。MDS的诊断需要采用多因素方法,既要利用传统的形态学技术,也要利用更新的分子遗传学技术。了解这些工具及其之间的相互作用,对于现代髓系肿瘤的诊断至关重要。

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