[New insights into the nature and classification of myelodysplastic neopmasm]

Zhonghua Yi Xue Za Zhi. 2024 Dec 10;104(46):4193-4196. doi: 10.3760/cma.j.cn112137-20240718-01647.
[Article in Chinese]

Abstract

The World Health Organization's (WHO) International Agency for Research on Cancer (IARC) released the fifth edition of the Classification of Tumors of the Hematopoietic and Lymphoid Tissues, renaming myelodysplastic syndrome (MDS) to myelodysplastic neoplasm (still abbreviated as MDS). This new classification integrates next-generation sequencing data to standardize the disease's nature. The name change reflects a deeper understanding of the disease, transitioning from the vague "syndrome" to a clearly defined neoplastic disease. The new classification divides MDS into two major categories: cytogenetic abnormalities and morphological abnormalities. Cytogenetic abnormalities include MDS with low blasts and isolated 5q deletion, MDS with low blasts and SF3B1 mutation, and MDS with biallelic TP53 alterations. Morphological abnormalities include MDS with low blasts, MDS with increased blasts and hypoplastic MDS. This revision provides a foundation for precise diagnosis and treatment of MDS, further restricting the application of immunosuppressive therapy and advancing genetic research in diagnostics and therapeutics.

世界卫生组织(WHO)国际癌症研究机构(IARC)发布的《造血和淋巴组织肿瘤分类》(第五版)中,将骨髓增生异常综合征(MDS)更名为骨髓增生异常肿瘤(仍简称MDS),新分类结合了新一代基因测序的数据,规范了MDS的疾病性质。名称的改变反映了对该疾病认识的深入,从模糊的“综合征”转变为明确的肿瘤性疾病。新分类将MDS分为两大类:细胞遗传学异常和形态学异常。细胞遗传学异常包括伴低原始细胞和孤立型5q缺失的MDS、伴低原始细胞和SF3B1突变的MDS及伴TP53失活双突变的MDS;形态学异常包括伴低原始细胞、伴高原始细胞和低增生MDS。此次分类的修订为MDS的精准诊断和治疗提供了基础,进一步限制了免疫抑制治疗的应用,并推动了基因遗传学在诊断和治疗中的探索。.

Publication types

  • English Abstract

MeSH terms

  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Pair 5 / genetics
  • Humans
  • Mutation*
  • Myelodysplastic Syndromes* / classification
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics