Michalová K, Musilová J, Zemanová Z
Third Medical Department, First Faculty of Medicine, Charles University Praha, Czechoslovakia.
Czech Med. 1990;13(4):133-44.
A total of 170 patients with chronic myeloid leukemia (CML), 107 in chronic phase (CP) and 63 in blastic phase (BP) of the disease, 187 patients with "de novo" acute myelogenous leukemia (AML) and 175 patients with myelodysplastic syndrome (MDS), 164 patients with primary and 11 with secondary MDS, were cytogenetically examined. All patients with CML were Ph positive, additional chromosomal changes were ascertained in 29% of patients in CP and in 71% of patients in BP. The most frequent chromosomal abnormalities were trisomy 8, additional Ph, (i(17q] and loss of Y chromosome. More favorable course of the disease was observed for group of patients with Ph chromosome as solitary chromosomal abnormality in CP. Acquired chromosomal aberrations were proved in 137 patients with AML (73.3%). Except specific chromosomal changes delineated according to the specific subtype of AML we were concerned with evaluation of nonrandom chromosomal abnormalities, specially those involving chromosome 5 and 7. Numerical and morphological changes of those chromosomes were found in 33 patients (17.6%). In MDS patients abnormal chromosomal clones were found in 68.8% of patients, those involving chromosome 5 and/or 7 in 68 patients (38.8% of all examined). The frequency of these abnormalities in AML does not differ significantly from the results quoted by the other studies. However, in our MDS patients these so called "mutagen-associated" chromosome abnormalities were significantly more frequent than in all studies published so far. Prognostic value of cytogenetic examination was evaluated on the basis of cumulative survival of patients with normal and abnormal chromosomal clones present in bone marrow cells.
对总共170例慢性髓性白血病（CML）患者进行了细胞遗传学检查，其中107例处于疾病慢性期（CP），63例处于急变期（BP）；187例“初发”急性髓性白血病（AML）患者和175例骨髓增生异常综合征（MDS）患者，164例原发性MDS患者和11例继发性MDS患者。所有CML患者均为Ph阳性，29%的CP期患者和71%的BP期患者存在额外的染色体改变。最常见的染色体异常是8号染色体三体、额外的Ph染色体、（i(17q)）和Y染色体缺失。在CP期，以Ph染色体作为唯一染色体异常的患者组疾病进程更为有利。137例AML患者（73.3%）证实存在获得性染色体畸变。除了根据AML的特定亚型所描述的特定染色体改变外，我们还关注非随机染色体异常的评估，特别是涉及5号和7号染色体的异常。在33例患者（17.6%）中发现了这些染色体的数量和形态变化。在MDS患者中，68.8%的患者发现了异常染色体克隆，其中68例（占所有检查患者的38.8%）涉及5号和/或7号染色体。这些异常在AML中的发生率与其他研究报道的结果无显著差异。然而，在我们的MDS患者中，这些所谓的“诱变相关”染色体异常比迄今为止发表的所有研究中更为常见。根据骨髓细胞中存在正常和异常染色体克隆的患者累积生存率评估细胞遗传学检查的预后价值。
