Abstract:
Acquired clonal chromosomal abnormalities (CAs) are usually considered to be disease-related. However, when a CA of this type is the only abnormality present (and especially in small clones), the clinical significance is unclear. Here, we review the literature on recurrent CAs whose significance is regularly subject to debate. Our objective was to help with their interpretation and develop guidelines for sex chromosome loss, trisomy 15, trisomy 8, deletion 20q and other isolated non-myelodysplastic neoplasm (MDS)-defining CAs. We suggest that non-MDS-defining CAs correspond to clonal hematopoiesis of indeterminate potential (CHIP) in the absence of cytopenia and clonal cytopenia of undetermined significance (CCUS) in the presence of cytopenia. Lastly, we review the literature on persistent polyclonal binucleated B-cell lymphocytosis; although usually benign, this condition may correspond to a premalignant state.
摘要:
获得性克隆染色体异常(CA)通常被认为与疾病相关。然而,当这种类型的CA是唯一存在的异常时(尤其是在小克隆中),临床意义尚不清楚。这里,我们回顾了有关复发性CA的文献,其重要性经常受到争论。我们的目标是帮助他们解释并制定性染色体丢失的指南,15三体,8三体,缺失20q和其他分离的非骨髓增生异常肿瘤(MDS)定义CA。我们建议,非MDS定义的CA对应于在没有血细胞减少症的情况下具有不确定潜力的克隆造血(CHIP)和在存在血细胞减少症的情况下具有不确定意义的克隆性血细胞减少(CCUS)。最后,我们回顾了关于持久性多克隆双核B细胞淋巴细胞增多的文献;尽管通常是良性的,这种情况可能对应于恶变前状态。