Ghaddar H M, Stass S A, Pierce S, Estey E H
Department of Hematology, University of Texas, M.D. Anderson Cancer Center, Houston 77030.
Leukemia. 1994 Oct;8(10):1649-53.
Cytogenetic evolution in the myelodysplastic syndrome (MDS) has been associated with an abrupt shift to acute myelogenous leukemia (AML). To investigate the 'evolution' of MDS to AML we compared the karyotypes of MDS patients at presentation and at development of AML. Of 170 patients with MDS who developed AML, 63 had banded karyotypes done at both time points. Fifteen patients had refractory anemia (RA) or RA with ringed sideroblasts (RARS), 27 had RA with excess blasts (RAEB), and 21 had RAEB in transformation (RAEBT). Patients had MDS for at least 12 weeks prior to developing AML. Thirty-one patients received cytotoxic therapy for MDS. Seventeen of 63 patients (27%) acquired a cytogenetic change when they developed AML. This percentage was significantly higher in RA/RARS patients compared to RAEB/RAEBT (53.3 vs. 18.8%, p < 0.01). Age, prior malignancy, cytotoxic therapy for MDS, and time to development of AML did not influence the probability of acquiring a cytogenetic change. The small number of patients did not allow testing for the effect of specific karyotypes on the incidence of cytogenetic change or the effect of this change on AML prognosis. The only recurring cytogenetic change was addition of chromosome 13 which occurred in four of 17 patients who changed. These data suggest that a cytogenetic change may be partly responsible for the transformation of RA/RARS, but not RAEB or RAEBT, to AML. This supports the concept that RAEB, RAEBT, and AML are different manifestations of the same disease, whereas RA/RARS are conditions that predispose to acute leukemia.
骨髓增生异常综合征（MDS）的细胞遗传学演变与向急性髓系白血病（AML）的突然转变有关。为了研究MDS向AML的“演变”，我们比较了MDS患者初诊时和发展为AML时的核型。在170例发展为AML的MDS患者中，63例在两个时间点都进行了带型核型分析。15例患者为难治性贫血（RA）或伴有环形铁粒幼细胞的RA（RARS），27例为伴有过多原始细胞的RA（RAEB），21例为转化中的RAEB（RAEBT）。患者在发展为AML之前患有MDS至少12周。31例患者接受了针对MDS的细胞毒性治疗。63例患者中有17例（27%）在发展为AML时出现了细胞遗传学改变。与RAEB/RAEBT患者相比，RA/RARS患者的这一比例显著更高（53.3%对18.8%，p<0.01）。年龄、既往恶性肿瘤、针对MDS的细胞毒性治疗以及发展为AML的时间均不影响发生细胞遗传学改变的可能性。患者数量较少，无法检测特定核型对细胞遗传学改变发生率的影响或这种改变对AML预后的影响。唯一反复出现的细胞遗传学改变是13号染色体增加，在17例发生改变的患者中有4例出现。这些数据表明，细胞遗传学改变可能部分导致了RA/RARS向AML的转化，但不是RAEB或RAEBT向AML的转化。这支持了以下概念，即RAEB、RAEBT和AML是同一疾病的不同表现形式，而RA/RARS是易患急性白血病的情况。
