Department of Hematopathology, MD Anderson Cancer Center, University of Texas, Houston, TX, USA.
Int J Lab Hematol. 2018 Aug;40(4):385-391. doi: 10.1111/ijlh.12826. Epub 2018 Apr 6.
Myelodysplastic syndromes are a group of hematopoietic stem cell diseases characterized by cytopenia(s), morphological dysplasia, and clonal hematopoiesis. In some patients, the cause of cytopenia(s) is uncertain, even after thorough clinical and laboratory evaluation. Evidence of clonal hematopoiesis has been used to support a diagnosis of myelodysplastic syndrome in this setting. In patients with cytopenia(s), the presence of clonal cytogenetic abnormalities, except for +8, del(20q) and -Y, can serve as presumptive evidence of myelodysplastic syndrome. Recent advances in next-generation sequencing have detected myeloid neoplasm-related mutations in patients who do not meet the diagnostic criteria for myelodysplastic syndrome. Various terms have been adopted to describe these cases, including clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of undetermined significance (CCUS). Similarly, studies have shown that certain chromosomal abnormalities, including ones commonly detected in myelodysplastic syndrome, may not be associated necessarily with an underlying myelodysplastic syndrome. These clonal cytogenetic abnormalities of undetermined significance (CCAUS) are similar to CHIP and CCUS. Here, we review the features of CCAUS, distinguishing CCAUS from clonal cytogenetic abnormalities associated with myelodysplastic syndrome, and the potential impact of CCAUS on patient management.
骨髓增生异常综合征是一组造血干细胞疾病，其特征为血细胞减少、形态学发育异常和克隆性造血。在一些患者中，即使经过彻底的临床和实验室评估，血细胞减少的原因仍不确定。克隆性造血的证据已被用于支持在这种情况下诊断骨髓增生异常综合征。在血细胞减少的患者中，除了+8、del(20q)和-Y 之外，存在克隆细胞遗传学异常可作为骨髓增生异常综合征的假定证据。下一代测序的最新进展已经在不符合骨髓增生异常综合征诊断标准的患者中检测到与髓系肿瘤相关的突变。已经采用了各种术语来描述这些病例，包括不确定的潜在克隆性造血（CHIP）和意义未明的克隆性血细胞减少（CCUS）。同样，研究表明，某些染色体异常，包括在骨髓增生异常综合征中常见的异常，不一定与潜在的骨髓增生异常综合征有关。这些意义未明的克隆细胞遗传学异常（CCAUS）与 CHIP 和 CCUS 相似。在这里，我们回顾了 CCAUS 的特征，区分了 CCAUS 与与骨髓增生异常综合征相关的克隆细胞遗传学异常，并讨论了 CCAUS 对患者管理的潜在影响。
