全球首例:见康华美实验室报道1号染色体长臂5倍复制案例

近日,见康华美在“International Journal of Hematology”杂志发表题为“Clonal cytopenia of undetermined significance presenting with multiple duplications of chromosome 1q”的文章(PMID: 37450174),报道了全球首例1号染色体长臂5倍复制的染色体案例。
 
1 号染色体畸变在恶性血液肿瘤中非常常见,是多发性骨髓瘤 (MM)、骨髓增殖性肿瘤 (MPN) 和骨髓增生异常肿瘤 (MDN) 中最为常见的染色体结构畸变之一。1 号染色体异常主要以1号染色体长臂(1q)发生复制或者1q整臂不平衡易位的形式出现,这些异常导致了1q的整体或部分拷贝数增加。其在血液肿瘤中的高频出现表明它在肿瘤发生中的重要作用。1q多拷贝在肿瘤中的形成机制尚不完全清楚,可能的机制包括病毒感染、免疫缺陷、卫星DNA低甲基化和染色体不稳定等[1-4]。1q多拷贝是“原发性”染色体异常,还是“继发性”染色体异常仍然是一个有争议的问题。但是1q多拷贝为细胞提供了增殖优势并推动克隆演变为血液肿瘤已是普遍的共识[5-7]。
 
 
 
 
在本次报道的案例中,该患者表现为全血细胞减少和伴有1q 3~5倍复制的多克隆异常,未发现细胞发育异常和其他症状,最终诊断为意义不明的克隆性细胞减少症(clonal cytopenia of undetermined significance, CCUS)。ISCN2020并未给出5倍复制染色体的描述方法,根据ISCN2020对2~4倍染色体复制的描述规则进行推演,我们将5倍复制染色体描述为qtp (quintuplication)。
 
原文链接:https://link.springer.com/article/10.1007/s12185-023-03641-8
 
 
参考文献:
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