Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris, Service d'Hématologie Clinique, University Paris XIII, Bobigny, France.
Leuk Res. 2011 Jul;35(7):863-7. doi: 10.1016/j.leukres.2011.02.008. Epub 2011 Mar 10.
Isolated 20q deletion is common in MDS and considered of good prognosis, but no large series have been reported. We compared characteristics of 62 MDS patients with isolated del 20q, 36 patients with del 20q and other cytogenetic abnormalities, and 1335 MDS patients without del20q. Significant differences between MDS with isolated del 20q and patients without del 20q were lower platelet count (mean 144 vs. 196 G/l, p=0.005), lower marrow blast count (mean 3.9% vs. 5.6%, p=0.0008), and higher reticulocyte count (mean 72.5 vs. 51.7 G/l, p=0.04). Ten (16%) patients with isolated del 20q had Hb>12 g/dl and platelets <100 G/l, compared to 7.3% of patients without del 20q (p=0.025). Review of marrow slides of those 10 patients showed that could be readily identified as MDS prior to cytogenetics. Fourteen percent of patients with isolated del 20q progressed to AML compared to 11% with one and 24% with several additional abnormalities. Median survival was 54 months in patients with isolated del 20q, not reached and 12 months for del 20q with one and several additional abnormalities, respectively (p=0.035) confirming the favorable prognosis of del 20q without complex abnormalities.
孤立 20q 缺失在 MDS 中很常见，被认为预后良好，但尚未有大型系列报道。我们比较了 62 例孤立性 20q 缺失的 MDS 患者、36 例伴有 20q 缺失和其他细胞遗传学异常的患者以及 1335 例无 20q 缺失的 MDS 患者的特征。孤立性 20q 缺失的 MDS 患者与无 20q 缺失的患者之间存在显著差异，主要表现在血小板计数较低（平均值分别为 144 和 196G/l，p=0.005）、骨髓原始细胞比例较低（平均值分别为 3.9%和 5.6%，p=0.0008）和网织红细胞计数较高（平均值分别为 72.5 和 51.7G/l，p=0.04）。10 例（16%）孤立性 20q 缺失患者的血红蛋白>12g/dl 且血小板<100G/l，而无 20q 缺失的患者中仅有 7.3%符合这一标准（p=0.025）。对这 10 例患者的骨髓切片进行复查，结果表明在细胞遗传学检查之前即可明确诊断为 MDS。孤立性 20q 缺失的患者中有 14%进展为 AML，而伴有 1 种或多种其他异常的患者分别为 11%和 24%。孤立性 20q 缺失患者的中位生存期为 54 个月，无进展和 12 个月，而伴有 1 种或多种其他异常的患者分别为未达到和 12 个月（p=0.035），证实了无复杂异常的 20q 缺失具有良好的预后。
