Center for Accelerating Leukemia/Lymphoma Research (CALR) - Comprehensive Cancer Center, IRCCS Humanitas Clinical and Research Center and Department of Biomedical Sciences, Humanitas University, Rozzano, Milan, Italy.
Curr Opin Hematol. 2023 Mar 1;30(2):30-37. doi: 10.1097/MOH.0000000000000752. Epub 2022 Dec 30.
The aim of this review is to provide a complete perspective of the evidence that led to the three recent new landmarks of myelodysplastic syndromes (MDS) definition and prognostication: the WHO 2022 and International Consensus Classification (ICC) 2022 classification and the Molecular Intermational Prognostic Scoring System (IPSS-M) score.
The molecular founding lesions of MDS are strongly linked with disease phenotype and prognosis, therefore the genetic assessment have become part of MDS classifications and prognostication.
The WHO 2022 now recognizes the class 'MDS with defining genetic abnormalities'. It includes 'MDS with SF3B1 mutation', and 'MDS with biallelic TP53 inactivation'. The ICC 2022 further introduces the category 'MDS/acute myeloid leukemia (AML)' emphasizing the biological continuum existing between the diseases, with the aim to expand therapeutic possibilities for MDS patients with more than 10% of blasts; it further identifies 9 MDS-funding lesions, defying the 'MDS/AML with myelodysplasia-related gene mutations' class. In recent years, many efforts have been done in order to specify and weight the role of mutations in disease prognostication; the IPSS-M proposed in 2022 finally integrates the molecular profile of the disease with the clinical and cytogenetic data, providing a better prognostication at patient level compared to IPSS-R.
本综述旨在提供导致骨髓增生异常综合征（MDS）定义和预后的三项最新重要进展的完整证据：2022 年世界卫生组织（WHO）和 2022 年国际共识分类（ICC）以及分子国际预后评分系统（IPSS-M）评分。
MDS 的分子基础病变与疾病表型和预后密切相关，因此基因评估已成为 MDS 分类和预后的一部分。
2022 年 WHO 现在认识到“具有明确遗传异常的 MDS 类”。它包括“SF3B1 突变的 MDS”和“双等位基因 TP53 失活的 MDS”。ICC 2022 进一步引入了“MDS/急性髓系白血病（AML）”类别，强调了两种疾病之间存在的生物学连续性，旨在为 blast 比例超过 10%的 MDS 患者提供更多的治疗可能性；它还确定了 9 种 MDS 致病突变，否定了“MDS/AML 伴髓系发育相关基因突变”类别。近年来，为了明确和权衡突变在疾病预后中的作用，已经做出了许多努力；2022 年提出的 IPSS-M 最终将疾病的分子特征与临床和细胞遗传学数据相结合，与 IPSS-R 相比，为患者提供了更好的预后评估。
