Musilová J, Michalová K, Zemanová Z, Brezinová J
3rd Department of Medicine, 1st Medical Faculty, Charles University, Prague, Czech Republic.
Cancer Genet Cytogenet. 1996 Jun;88(2):141-3. doi: 10.1016/0165-4608(95)00289-8.
We identified cytogenetically unrelated clones in the bone marrow of 12 of 240 patients with myelodysplastic syndrome (MDS) and in 3 of 232 patients with acute myeloid leukemia (AML). In addition, unrelated single-cell abnormalities were found in six MDS and two AML patients. The most commonly encountered abnormalities present in the unrelated clones in patients with refractory anemia (RA) were del(5q), +8, and -7. In blastic types of MDS and AML trisomy 8 was found in two of eight patients while in the remaining cases the chromosome abnormalities were diverse and nonspecific. The presence of the chromosomally unrelated clones, together with recent data on the early appearance of monoclonality provided by molecular biology studies, support the interpretation that aberrations such as +8 and del(5q) are actually secondary abnormalities that develop during tumor progression in a cell with a primary submicroscopic genomic rearrangement.
我们在240例骨髓增生异常综合征（MDS）患者中的12例以及232例急性髓系白血病（AML）患者中的3例的骨髓中鉴定出细胞遗传学上不相关的克隆。此外，在6例MDS患者和2例AML患者中发现了不相关的单细胞异常。难治性贫血（RA）患者中不相关克隆中最常见的异常是del(5q)、+8和-7。在MDS和AML的原始细胞类型中，8例患者中有2例出现8号染色体三体，而在其余病例中，染色体异常多样且不具有特异性。染色体不相关克隆的存在，以及分子生物学研究提供的关于单克隆性早期出现的最新数据，支持这样一种解释，即诸如+8和del(5q)等畸变实际上是在具有原发性亚微观基因组重排的细胞的肿瘤进展过程中发生的继发性异常。
