Sreekantaiah C, Rao P H, Xu L, Sacks P G, Schantz S P, Chaganti R S
Cell Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York 10021.
Genes Chromosomes Cancer. 1994 Sep;11(1):29-39. doi: 10.1002/gcc.2870110106.
Clonal chromosomal abnormalities were characterized in nine cell lines established from squamous cell carcinomas of the head and neck. Aneuploidy was a common feature; one cell line was near-diploid, three were near-triploid, four were near-tetraploid, and one cell line showed extensive variation in chromosome numbers. Consistent numerical abnormalities included loss of the sex chromosomes in six cell lines, losses of chromosomes 2 and 21 in six and five cell lines, respectively, and gain of chromosome 20 in five cell lines. Recurrent structural rearrangements included del(10)(q22-q26) (seven cell lines), i(5)(p10) (six cell lines), i(8)(q10) (six cell lines), add(19)(q13) (six cell lines), del(4)(q21-q31.3) (five cell lines), i(3)(q10) (four cell lines), del(12)(p11.1-p12) (four cell lines), and add (18)(q21-q23) (four cell lines). Other changes were noted in lower frequencies. Loss of specific regions on chromosomes 2, 3p, 4q, 5q, 8p, 10q, 12p, 18q, 19q, and 21 suggests that they may represent sites of putative tumor suppressor genes, loss of which may play a role in the pathogenesis of squamous cell carcinomas of the head and neck. Alternatively, gain of chromosomal region 3q, 5p, and 8q due to isochromosome formation suggests that more than one mechanism is involved in malignant transformation. Cytogenetic evidence of gene amplification was found in two cell lines; as an hsr(11)(q13) in one and as dmins in the other. The clonal karyotypes of four cell lines were compared with those of their respective primary tumors. In all cell lines, clonal evolution had occurred, with loss of some rearrangements present in the primary tumors or the gain of additional abnormalities.
对头颈部鳞状细胞癌建立的9个细胞系中的克隆性染色体异常进行了表征。非整倍体是一个常见特征；一个细胞系接近二倍体，三个接近三倍体，四个接近四倍体，还有一个细胞系的染色体数目显示出广泛变异。一致的数值异常包括六个细胞系中的性染色体缺失，六个和五个细胞系中分别的2号和21号染色体缺失，以及五个细胞系中的20号染色体增加。反复出现的结构重排包括del(10)(q22 - q26)（七个细胞系）、i(5)(p10)（六个细胞系）、i(8)(q10)（六个细胞系）、add(19)(q13)（六个细胞系）、del(4)(q21 - q31.3)（五个细胞系）、i(3)(q10)（四个细胞系）、del(12)(p11.1 - p12)（四个细胞系）和add(18)(q21 - q23)（四个细胞系）。其他变化出现频率较低。2号、3p、4q、5q、8p、10q、12p、18q、19q和21号染色体上特定区域的缺失表明，它们可能代表假定的肿瘤抑制基因位点，这些位点的缺失可能在头颈部鳞状细胞癌的发病机制中起作用。另外，由于等臂染色体形成导致的3q、5p和8q染色体区域增加表明，恶性转化涉及不止一种机制。在两个细胞系中发现了基因扩增的细胞遗传学证据；一个细胞系中有hsr(11)(q13)，另一个细胞系中有双微体。将四个细胞系的克隆核型与其各自的原发性肿瘤进行了比较。在所有细胞系中都发生了克隆进化，原发性肿瘤中存在的一些重排丢失或出现了额外的异常。
