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骨髓增生异常/骨髓增殖性肿瘤,不能分类(MDS/MPN-U):不仅仅是一个“包罗万象”的术语?

Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): More than just a "catch-all" term?

机构信息

Section of Hematology, Department of Internal Medicine, Yale University School of Medicine, New Haven, USA; Yale Cancer Center, New Haven, USA.

Section of Hematology, Department of Internal Medicine, Yale University School of Medicine, New Haven, USA; Yale Cancer Center, New Haven, USA.

出版信息

Best Pract Res Clin Haematol. 2020 Jun;33(2):101132. doi: 10.1016/j.beha.2019.101132. Epub 2019 Dec 6.

Abstract

The clinicopathology of MDS and MPN are not mutually exclusive and for this reason the category of myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) exists. Several sub-entities have been included under the MDS/MPN umbrella, including MDS/MPN-unclassifiable (MDS/MPN-U) for those cases whose morphologic and clinical phenotype do not meet criteria to be classified as any other MDS/MPN sub-entity. Though potentially regarded as a wastebasket diagnosis, since its integration into myeloid disease classification, MDS/MPN-U has been refined with increasing understanding of the mutational and genomic events that drive particular clinicopathologic phenotypes, even within MDS/MPN-U. The prototypical example is the identification of SF3B1 mutations and its durable association with MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), an entity previously buried within, but now a separate category outside of MDS/MPN-U. Continued and enhanced study of those entities under MDS/MPN-U, a perhaps provisional category itself, is likely to progressively identify commonality between many "unclassifiables" to establish a new classifiable diagnosis.

摘要

MDS 和 MPN 的临床病理表现并非互斥,因此存在骨髓增生异常综合征/骨髓增殖性肿瘤(MDS/MPN)这一类别。几种亚型已归入 MDS/MPN 伞下,包括那些形态学和临床表现不符合任何其他 MDS/MPN 亚型标准的病例,被归类为 MDS/MPN 无法分类(MDS/MPN-U)。尽管 MDS/MPN-U 可能被视为一种“废物筐诊断”,但自从其被纳入骨髓疾病分类以来,随着对驱动特定临床病理表型的突变和基因组事件的认识不断加深,MDS/MPN-U 已得到了进一步的细化,即使在 MDS/MPN-U 中也是如此。典型的例子是 SF3B1 突变的鉴定及其与环形铁幼粒细胞增多伴血小板增多性骨髓增生异常综合征/骨髓增殖性肿瘤(MDS/MPN-RS-T)的持久相关性,该实体以前被归入 MDS/MPN-U 内,但现在是 MDS/MPN-U 之外的一个独立类别。对 MDS/MPN-U 下的这些实体进行持续和强化研究,也许可以将许多“无法分类”的实体之间的共性逐渐识别出来,从而建立一个新的可分类诊断。

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