Gollin S M, Storto P D, Malone P S, Barnes L, Washington J A, Chidambaram A, Janecka I P
Department of Human Genetics, University of Pittsburgh, Pennsylvania.
Genes Chromosomes Cancer. 1992 Mar;4(2):146-52. doi: 10.1002/gcc.2870040208.
Cytogenetic analysis of a cemento-ossifying fibroma from a patient with nonfamilial bilateral multicentric retinoblastoma revealed three reciprocal translocations with the karyotype 46,XY,t(1;18)(q21;q21.3),t(3;10)(p13;q22),t(6;11)(p22;p15). Routine and high-resolution cytogenetic analysis of peripheral blood leukocytes showed an apparently normal, 46,XY chromosome pattern with no deletion of chromosome 13. Molecular analysis demonstrated no gross differences in the retinoblastoma gene or the TP53 gene between constitutional and tumor DNA. This is the first cytogenetic analysis of a cemento-ossifying fibroma and the first report of this tumor in a retinoblastoma patient. The data may be added to the small, but growing literature on cytogenetic aberrations in benign tumors and may lend insight into genes involved in cell proliferation and neoplastic transformation.
对一名患有非家族性双侧多中心视网膜母细胞瘤患者的骨化纤维瘤进行细胞遗传学分析，结果显示其核型为46,XY，存在三种相互易位，即t(1;18)(q21;q21.3)、t(3;10)(p13;q22)、t(6;11)(p22;p15)。对外周血白细胞进行常规和高分辨率细胞遗传学分析，结果显示染色体模式明显正常，为46,XY，且13号染色体无缺失。分子分析表明，在胚系DNA和肿瘤DNA之间，视网膜母细胞瘤基因或TP53基因无明显差异。这是首次对骨化纤维瘤进行细胞遗传学分析，也是首次报道视网膜母细胞瘤患者出现这种肿瘤。这些数据可能会补充到关于良性肿瘤细胞遗传学异常的少量但不断增加的文献中，并可能有助于深入了解参与细胞增殖和肿瘤转化的基因。
