Department of Hematology, Salamanca University Hospital, Salamanca, Spain.
Cancer. 2012 Jan 1;118(1):127-33. doi: 10.1002/cncr.26279. Epub 2011 Jun 29.
Abnormalities involving chromosome 7 are frequent in myelodysplastic syndrome (MDS) and suggest a poor prognosis.
The authors examined the hypothesis that the clinical features and survival associated with isolated deletion (del) of part of the long arm of chromosome 7 (7q) in MDS are different from those associated with isolated monosomy 7 (complete loss of chromosome 7). In total, 133 patients with a diagnosis of de novo MDS (according to the World Health Organization [WHO] classification) and chromosome 7 abnormalities in the Spanish MDS Registry were evaluated retrospectively. Four karyotypic groups were identified: isolated del(7q) (n = 29), isolated monosomy 7 (n = 27), del(7q) with additional abnormalities (n = 24), and monosomy 7 with additional abnormalities (n = 53).
Isolated del(7q) was more frequent in patients with less advanced MDS according to the WHO classification or the International Prognostic Scoring System. In addition, isolated del(7q) was associated with fewer blasts in bone marrow than other cytogenetics groups. Survival was significantly superior in patients with isolated del(7) than in those with isolated monosomy 7, del(7q) with additional abnormalities, or monosomy 7 with additional abnormalities. On multivariate analysis, age, the percentage of blasts in bone marrow, and other chromosome 7 abnormalities apart from isolated del(7q) were identified as independent risk factors for survival.
The current results demonstrated that patients who had MDS with isolated del(7q) had some distinct clinical-pathologic characteristics as well as better survival than patients who had MDS with isolated monosomy 7.
染色体 7 异常在骨髓增生异常综合征（MDS）中很常见，提示预后不良。
作者检验了这样一种假设，即在 MDS 中，孤立的 7 号染色体长臂部分缺失（del）（7q）与孤立的单体 7（完全缺失 7 号染色体）相关的临床特征和生存情况不同。总共回顾性评估了西班牙 MDS 注册中心诊断为初发性 MDS（根据世界卫生组织 [WHO] 分类）和染色体 7 异常的 133 例患者。确定了四个核型组：孤立的 del(7q)（n = 29）、孤立的单体 7（n = 27）、del(7q) 伴其他异常（n = 24）和单体 7 伴其他异常（n = 53）。
根据 WHO 分类或国际预后评分系统，孤立的 del(7q) 在 MDS 程度较轻的患者中更为常见。此外，孤立的 del(7q) 与骨髓中较少的原始细胞有关。与其他细胞遗传学组相比，孤立的 del(7q) 患者的生存明显更好。在多变量分析中，年龄、骨髓中原始细胞的百分比以及除孤立的 del(7q) 以外的其他 7 号染色体异常被确定为生存的独立危险因素。
目前的结果表明，患有孤立的 del(7q) 的 MDS 患者具有一些独特的临床病理特征，并且比患有孤立的单体 7 的 MDS 患者的生存更好。
