Sreekantaiah C, Leong S P, Sandberg A A
Cancer Center of Southwest, Biomedical Research Institute, Scottsdale, AZ 85251.
Cancer Genet Cytogenet. 1990 Jul 1;47(1):113-30. doi: 10.1016/0165-4608(90)90271-b.
We report the detailed cytogenetic findings from short-term cultures of six lipomas with complex chromosomal abnormalities. In all six cases, the abnormality occurred in two stages; an initial inversion, translocation, or insertion of the involved chromosome(s) followed by a subsequent rearrangement of the resultant derivative chromosome(s). A striking feature of these rearrangements was the consistent involvement of bands q13 - q14 on chromosome 12 in all the abnormalities. This region has been shown to be specifically rearranged in most of the lipomas studied. The other chromosomes involved in the rearrangements were chromosomes 1 in four cases, 5 and 9 in two cases each, and 2, 3, 4, 7, and 10 in one case each. Our findings and published findings show that, with a few exceptions, benign tumors that were previously considered cytogenetically normal, are characterized not only by specific numerical and structural changes but may also contain complex chromosome rearrangements that are generally considered a hallmark of advanced malignancy. In benign tumors, this suggests that the genes at the region of the breakpoints may represent proliferation-related genes or that benign tumors with such complex aberrations represent neoplasms potentially capable of undergoing transformation to malignancy, or both.
我们报告了6例伴有复杂染色体异常的脂肪瘤短期培养的详细细胞遗传学结果。在所有6例中，异常发生在两个阶段：首先是受累染色体的倒位、易位或插入，随后是产生的衍生染色体的进一步重排。这些重排的一个显著特征是，在所有异常中，12号染色体的q13 - q14带始终受累。在大多数所研究的脂肪瘤中，该区域已显示出特异性重排。参与重排的其他染色体，4例中有1号染色体，2例中有5号和9号染色体，1例中分别有2、3、4、7和10号染色体。我们的研究结果和已发表的研究结果表明，除少数例外，以前被认为细胞遗传学正常的良性肿瘤，不仅具有特定的数量和结构变化，还可能包含通常被认为是晚期恶性肿瘤标志的复杂染色体重排。在良性肿瘤中，这表明断点区域的基因可能代表增殖相关基因，或者具有这种复杂畸变的良性肿瘤代表可能能够转化为恶性肿瘤的肿瘤，或两者皆是。
