Suciu S, Kuse R, Weh H J, Hossfeld D K
Department of Oncology/Hematology, Medical University Clinic, Hamburg, Germany.
Cancer Genet Cytogenet. 1990 Jan;44(1):15-26. doi: 10.1016/0165-4608(90)90193-e.
Cytogenetic studies were performed in 120 patients with de novo myelodysplastic syndrome (MDS) classified according to FAB criteria. Twenty-eight patients had refractory anemia (RA), 14 had refractory anemia with ring sideroblasts (RARS), 45 had refractory anemia with blast excess (RAEB), 19 had refractory anemia with blast excess in transformation (RAEB-t), and 14 had chronic myelomonocytic leukemia (CMMoL). Fifty patients (42%) had clonal chromosome anomalies at initial analysis. The most common cytogenetic anomalies were: 5q- (11 patients), trisomy 8 (nine patients), -7/7q- (6 patients), 12p- (five patients), followed by structural anomalies of chromosome 17 (four patients), and loss of Y chromosome (three patients). The prognostic value of chromosome anomalies was examined by comparison of the significance of single chromosome anomalies (34 patients) versus multiple cytogenetic changes (16 patients). Patients with multiple anomalies had a shorter survival (8 months) than patients with single anomalies (18 months) or those with a normal karyotype (36 months). All these differences were significant. The incidence of multiple anomalies was higher in patients with RAEB and RAEB-t than in those with RA, RARS, and CMMOL (p less than 0.05). However, no chromosome anomaly was specifically associated with any group of FAB classification. Transformation to acute leukemia was observed in 25% of patients with normal karyotype, 41% of patients with single anomalies, and 50% of patients with multiple changes. The incidence of leukemic transformation was significantly higher in patients with multiple anomalies than in those with a normal karyotype (p less than 0.05). Thus, in the present study, FAB classification and chromosome anomalies were of independent prognostic significance. Sequential cytogenetic studies were performed in 23 patients to correlate the cytogenetic and clinical findings during the course of the disease. Six of seven patients with transformation to acute leukemia showed a karyotypic evolution. These findings agree with the view that an unstable karyotype can be associated with a poor prognosis.
对120例根据FAB标准分类的初发骨髓增生异常综合征（MDS）患者进行了细胞遗传学研究。28例患者为难治性贫血（RA），14例为环形铁粒幼细胞难治性贫血（RARS），45例为原始细胞增多难治性贫血（RAEB），19例为转化型原始细胞增多难治性贫血（RAEB-t），14例为慢性粒单核细胞白血病（CMMoL）。50例患者（42%）在初始分析时有克隆性染色体异常。最常见的细胞遗传学异常为：5号染色体长臂缺失（5q-，11例患者）、8号染色体三体（9例患者）、7号染色体单体/7号染色体长臂缺失（-7/7q-，6例患者）、12号染色体短臂缺失（12p-，5例患者），其次是17号染色体结构异常（4例患者）和Y染色体缺失（3例患者）。通过比较单一染色体异常患者（34例）与多种细胞遗传学改变患者（16例）的意义，研究了染色体异常的预后价值。有多种异常的患者生存期（8个月）比有单一异常的患者（18个月）或核型正常的患者（36个月）短。所有这些差异均具有显著性。RAEB和RAEB-t患者中多种异常的发生率高于RA、RARS和CMMOL患者（p<0.05）。然而，没有任何染色体异常与FAB分类的任何一组有特异性关联。核型正常的患者中有25%转化为急性白血病，有单一异常的患者中有41%，有多种改变的患者中有50%。有多种异常的患者白血病转化的发生率显著高于核型正常的患者（p<0.05）。因此，在本研究中，FAB分类和染色体异常具有独立的预后意义。对23例患者进行了连续细胞遗传学研究，以关联疾病过程中的细胞遗传学和临床发现。7例转化为急性白血病的患者中有6例显示核型演变。这些发现与核型不稳定可能与预后不良相关的观点一致。
