■慢性粒单核细胞白血病(CMML)和骨髓增生异常综合征(MDS)与环铁皮细胞(RS)或SF3B1突变(MDS-RS/SF3B1)在许多临床特征上有所不同,但是分享其他人,比如贫血。在CMML中也可以发现RS和SF3B1突变。
■考虑到2022年世界卫生组织分类建立的标准,我们比较了有和没有RS/SF3B1和MDS-RS/SF3B1的CMML。
■共纳入815例患者(CMML,n=319,CMML-RS/SF3B1,n=172,MDS-RS/SF3B1,n=324)。在几乎所有CMML-RS/SF3B1患者中,RS的百分比≥15%(169,98.3%),大多数(125,72.7%)显示外周血单核细胞计数在0.5至0.9x109/L之间,并且具有低风险预后类别。CMML-RS/SF3B1在主要临床特征上与经典CMML有显著差异,而它类似于MDS-RS/SF3B1。在分子水平上,与CMML/MDS-RS/SF3B1相比,CMML和CMML-RS/SF3B1在TET2(主要是多重命中)和ASXL1(p=0.013)中的突变频率明显更高,CMML的DNMT3A和SF3B1突变频率明显更低。三组之间的中位总生存期差异具有统计学意义:CMML-RS/SF3B1与CMML-RS的6.75年(95%置信区间[CI]5.41-8.09)。CMML与CMML的3.17年(95%CI2.56-3.79)MDS-RS/SF3B1为16.47年(NA),p<0.001。关于CMML和MDS患者,都有SF3B1突变,生存率没有显著差异.CMML转化为急性髓细胞性白血病的风险较高(8岁时为24%,95CI19%-30%)。
■CMML-RS/SF3B1突变在表型方面类似于MDS-RS/SF3B1,并且与CMML明显不同。CMML中≥15%RS和/或SF3B1的存在与单核细胞计数低有关。SF3B1突变可明显改善CMML的预后。
UNASSIGNED: Chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or SF3B1 mutation (MDS-RS/SF3B1) differ in many clinical features, but share others, such as anemia. RS and SF3B1 mutation can also be found in CMML.
UNASSIGNED: We compared CMML with and without RS/SF3B1 and MDS-RS/SF3B1 considering the criteria established by the 2022 World Health Organization classification.
UNASSIGNED: A total of 815 patients were included (
CMML, n=319,
CMML-RS/SF3B1, n=172 and MDS-RS/SF3B1, n=324). The percentage of RS was ≥15% in almost all CMML-RS/SF3B1 patients (169, 98.3%) and most (125, 72.7%) showed peripheral blood monocyte counts between 0.5 and 0.9 x109/L and low risk prognostic categories.
CMML-RS/SF3B1 differed significantly from classical
CMML in the main clinical characteristics, whereas it resembled MDS-RS/SF3B1. At a molecular level,
CMML and
CMML-RS/SF3B1 had a significantly higher frequency of mutations in TET2 (mostly multi-hit) and ASXL1 (p=0.013) and CMML had a significantly lower frequency of DNMT3A and SF3B1 mutations compared to
CMML/MDS-RS/SF3B1. Differences in the median overall survival among the three groups were statistically significant: 6.75 years (95% confidence interval [CI] 5.41-8.09) for CMML-RS/SF3B1 vs. 3.17 years (95% CI 2.56-3.79) for CMML vs. 16.47 years (NA) for MDS-RS/SF3B1, p<0.001. Regarding patients with CMML and MDS, both with SF3B1 mutation, survival did not significantly differ. CMML had a higher risk of transformation to acute myeloid leukemia (24% at 8 years, 95%CI 19%-30%).
UNASSIGNED: CMML-RS/SF3B1 mutation resembles MDS-RS/SF3B1 in terms of phenotype and clearly differs from
CMML. The presence of ≥15% RS and/or SF3B1 in CMML is associated with a low monocyte count. SF3B1 mutation clearly improves the prognosis of CMML.