Brett Victor-Emmanuel, Lechevalier Nicolas, Trimoreau Franck, Dussiau Charles, Dimicoli-Salazar Sophie, Coster Lucie, Luquet Isabelle, Nadal Nathalie, Ribourtout Bénédicte, Chapiro Elise, Lefebvre Christine, Tondeur Sylvie, Balducci Estelle, Nguyen-Khac Florence, Borie Claire, Radford-Weiss Isabelle, Barin Carole, Eclache Virginie, Mansier Olivier, Bidet Audrey
Laboratoire d'Hématologie Biologique, CHU Bordeaux, Bordeaux, France.
Laboratoire d'Hématologie Biologique, CHU Limoges, Limoges, France.
Genes Chromosomes Cancer. 2023 Mar;62(3):139-151. doi: 10.1002/gcc.23107. Epub 2022 Nov 30.
Myelodysplastic syndromes (MDS) are hematological malignancies classically defined by the presence of cytopenia(s) and dysmorphic myeloid cells. It is now known that MDS can be preceded by a pre-malignant condition called clonal cytopenia of unknown significance (CCUS), which associates a clonality marker with cytopenia in the absence of criteria of dysplasia. However, to date, it is not clear whether chromosomal abnormalities should be considered in the definition of CCUS or if they carry a prognostic impact in CCUS patients. In this study, we analyzed the clinico-biological features and outcomes of 34 patients who presented with one or more cytopenias, an absence of significant dysplasia, and a presence of a chromosomal abnormality (CA). We named this entity chromosomal abnormality with cytopenia of undetermined significance (CACtUS). We show that these patients are slightly older than MDS patients and that they more frequently presented with normocytic anemia. Most CACtUS patients exhibited only one unbalanced CA. The number and type of mutations were comparable between CACtUS patients and MDS patients. Regardless of the cytogenetic abnormality, the clinicobiological characteristics, overall survival, and risk of progression to high-risk (HR) MDS were similar between CACtUS patients and low-risk MDS patients. Thus, we suggest that CACtUS patients can be considered as HR-CCUS and should receive the follow-up regimen recommended for MDS patients.
骨髓增生异常综合征（MDS）是一类血液系统恶性肿瘤，传统上由血细胞减少和异型髓系细胞的存在来定义。现在已知，MDS之前可能存在一种称为意义未明的克隆性血细胞减少（CCUS）的癌前状态，它在不存在发育异常标准的情况下将克隆性标志物与血细胞减少相关联。然而，迄今为止，尚不清楚在CCUS的定义中是否应考虑染色体异常，或者它们在CCUS患者中是否具有预后影响。在本研究中，我们分析了34例出现一种或多种血细胞减少、无明显发育异常且存在染色体异常（CA）的患者的临床生物学特征和预后。我们将这个实体命名为意义未明的染色体异常伴血细胞减少（CACtUS）。我们发现这些患者比MDS患者年龄稍大，且更常出现正细胞性贫血。大多数CACtUS患者仅表现出一种不平衡的CA。CACtUS患者和MDS患者之间的突变数量和类型相当。无论细胞遗传学异常如何，CACtUS患者和低危MDS患者之间的临床生物学特征、总生存期以及进展为高危（HR）MDS的风险相似。因此，我们建议CACtUS患者可被视为HR-CCUS，应接受推荐给MDS患者的随访方案。
