Heim S, Mitelman F
Department of Clinical Genetics, Lund University Hospital, Sweden.
Leukemia. 1989 Jan;3(1):6-8.
We have reviewed literature data on 6,306 cases of hematological neoplasia--acute and chronic lymphatic and myeloid leukemias (CML excepted), myelodysplastic and chronic lymphoproliferative and myeloproliferative disorders, and malignant lymphomas--with the goal of quantitatively ascertaining how often cytogenetically unrelated clones occur in these diseases. Unexpectedly wide variations were found: in ANLL, unrelated clones were present in 1.1% of the 2,506 known cases with chromosome abnormalities characterized with banding technique; in the various myelodysplastic (MDS) and chronic myeloproliferative (CMD) disorders (total number of cases 1,299) the frequency was 4.3% and in lymphatic malignancies 1.3% (total case number 2,501). In the latter group the proportions varied between 0.4% and 0.6% in ALL and malignant lymphoma (ML) to as much as 6.2% in CLD and 7.3% in CLL. Some karyotypic abnormalities were encountered more often than would be expected from their general frequency in the various diseases. This discrepancy was particularly evident in MDS and CMD, where 5q- was found in slightly less and +8 in somewhat more than half of the 56 cases. Furthermore, these two aberrations were found as the only changes in the two coexisting clones in one-fourth of the material. Although if viewed in isolation these data would undoubtedly be best explained by assuming a multicellular origin of the neoplasm, it is entirely possible that what are cytogenetically perceived as unrelated clones could be subclones with some invisible aberration in common. If so, this interpretation indicates that changes like +8 and 5q-, both of which are common rearrangements in bone marrow neoplasms, are actually secondary changes that develop during tumor progression.
我们回顾了6306例血液系统肿瘤的文献数据，这些肿瘤包括急慢性淋巴细胞白血病和髓细胞白血病（慢性粒细胞白血病除外）、骨髓增生异常综合征、慢性淋巴细胞增殖性疾病、慢性髓细胞增殖性疾病以及恶性淋巴瘤，目的是定量确定这些疾病中细胞遗传学不相关克隆出现的频率。结果发现存在意想不到的广泛差异：在急性非淋巴细胞白血病（ANLL）中，在2506例已知有染色体异常（通过显带技术鉴定）的病例中，不相关克隆的出现频率为1.1%；在各种骨髓增生异常综合征（MDS）和慢性髓细胞增殖性疾病（CMD）（病例总数1299例）中，该频率为4.3%，在淋巴系统恶性肿瘤中为1.3%（病例总数2501例）。在后一组中，在急性淋巴细胞白血病（ALL）和恶性淋巴瘤（ML）中比例在0.4%至0.6%之间，而在慢性淋巴细胞白血病（CLD）中高达6.2%，在慢性淋巴细胞白血病（CLL）中为7.3%。某些核型异常的出现频率高于其在各种疾病中的总体频率。这种差异在MDS和CMD中尤为明显，在56例病例中，略少于一半的病例发现有5号染色体长臂缺失（5q-），略多于一半的病例发现有8号染色体三体（+8）。此外，在四分之一的病例中，这两种畸变是两个共存克隆中仅有的变化。尽管单独来看，这些数据无疑最好通过假设肿瘤的多细胞起源来解释，但完全有可能细胞遗传学上被视为不相关的克隆实际上是具有一些共同的不可见畸变的亚克隆。如果是这样，这种解释表明，像+8和5q-这样的变化，这两者都是骨髓肿瘤中常见的重排，实际上是肿瘤进展过程中发生的继发性变化。
