Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Leukemia. 2012 Jun;26(6):1286-92. doi: 10.1038/leu.2011.391. Epub 2012 Jan 13.
Myelodysplastic syndromes (MDS) with del(5q) are considered to have a benign course of the disease. In order to address the issue of the propensity of those patients to progress to acute myeloid leukemia (AML), data on 381 untreated patients with MDS and del(5q) characterized by low or intermediate I International Prognostic Scoring System (IPSS) risk score were collected from nine centers and registries. Median survival of the entire group was 74 months. Transfusion-dependent patients had a median survival of 44 months vs 97 months for transfusion-independent patients (P<0.0001). Transfusion need at diagnosis was the most important patient characteristic for survival. Of the 381 patients, 48 (12.6%) progressed to AML. The cumulative progression rate calculated using the Kaplan-Meier method was 4.9% at 2 years and 17.6% at 5 years. Factors associated with the risk of AML transformation were high-risk World Health Organization adapted Prognostic Scoring System (WPSS) score, marrow blast count >5% and red-cell transfusion dependency at diagnosis. In conclusion, patients with MDS and del(5q) are facing a considerable risk of AML transformation. More detailed cytogenetic and molecular studies may help to identify the patients at risk of progression.
伴 5q- 缺失的骨髓增生异常综合征（MDS）被认为具有良性疾病过程。为了解决这些患者向急性髓系白血病（AML）进展的倾向问题，我们从九个中心和注册处收集了 381 例未经治疗的 MDS 伴低或中危国际预后评分系统（IPSS）风险评分的 del(5q)患者的数据。整个组的中位生存期为 74 个月。依赖输血的患者中位生存期为 44 个月，而不依赖输血的患者为 97 个月（P<0.0001）。诊断时的输血需求是影响生存的最重要的患者特征。在 381 例患者中，48 例（12.6%）进展为 AML。用 Kaplan-Meier 法计算的累积进展率在 2 年时为 4.9%，在 5 年时为 17.6%。与 AML 转化风险相关的因素是高危世界卫生组织适应性预后评分系统（WPSS）评分、骨髓原始细胞计数>5%和诊断时红细胞输血依赖。总之，伴 del(5q)的 MDS 患者面临着相当大的 AML 转化风险。更详细的细胞遗传学和分子研究可能有助于识别有进展风险的患者。
