Pathak S, Goodacre A
Cancer Genet Cytogenet. 1986 Jan 1;19(1-2):29-36. doi: 10.1016/0165-4608(86)90368-7.
Specific chromosome abnormalities in three human solid tumors of adulthood--renal cell carcinoma, breast tumor, and colon carcinoma--are described. Two of the neoplasms are associated with a reciprocal translocation involving chromosome #3 (breakpoint at band p13-14 with 6, 8, 11, and 16) in renal cell carcinomas and chromosome #1 (breakpoint at band q21 with chromosomes #3, #5, #10, #11, and #12) in breast carcinomas. Most of these chromosomal rearrangements have been seen as tumor-specific acquired changes in tumor cells, as well as some constitutionally present in normal tissues of patients. In a limited number of colorectal carcinoma samples a deletion in the short arm of a chromosome #12 is implicated as a specific abnormality. The expression of fragile sites in these specific chromosomal regions in the normal peripheral blood cultures might identify an individual predisposed to develop a particular type of neoplasm.
本文描述了三种成人实体瘤——肾细胞癌、乳腺癌和结肠癌——中的特定染色体异常情况。其中两种肿瘤与相互易位有关,肾细胞癌涉及3号染色体(在p13 - 14带与6、8、11和16号染色体发生断点),乳腺癌涉及1号染色体(在q21带与3、5、10、11和12号染色体发生断点)。这些染色体重排大多被视为肿瘤细胞中肿瘤特异性的后天性变化,以及患者正常组织中某些先天性存在的变化。在有限数量的结肠直肠癌样本中,12号染色体短臂的缺失被认为是一种特定异常。在正常外周血培养中,这些特定染色体区域脆性位点的表达可能会识别出易患特定类型肿瘤的个体。