Van Dyke D L, Worsham M J, Benninger M S, Krause C J, Baker S R, Wolf G T, Drumheller T, Tilley B C, Carey T E
Medical Genetics Center, Henry Ford Hospital, Detroit, Michigan 48202.
Genes Chromosomes Cancer. 1994 Mar;9(3):192-206. doi: 10.1002/gcc.2870090308.
We characterized the breakpoints, gains, and losses of chromosome material in squamous cell carcinomas of the head and neck region from 29 patients. Cell lines were karyotyped in 1/3 of cases, direct preparations or early in vitro harvests in 1/3, and both in 1/3 of cases. GTG-banding was employed in all cases, as were C-banding and RBG- and AgNOR-staining in most. Some tumors were near-diploid and others near-tetraploid, but many had mixed populations, with diploid, tetraploid, and octoploid subclones representing essentially the same karyotypic pattern. The most frequent changes were deletions. Losses affecting 3p13-p24, 5q12-q23, 8p22-p23, 9p21-p24, and 18q22-q23 ranged in frequency from 40% to 60% of tumors. Loss of the short arm of the inactive X occurred in 70% of tumors from female patients, and loss or rearrangement of the Y occurred in 74% of tumors from male patients. Loss of 18q appeared to be associated with short survival, as did the presence of multiple deletions. There was gain (2-5 extra copies) of 3q21-qter, 5p, 7p, 8q, and 11q13-q23 in 28-38% of tumors. Three tumors had an hsr involving 11q13-q21. Gain of material at 11q13 is postulated to be associated with amplification of the PRADI/CCND gene at that locus. A translocation between proximal 1p and either an acrocentric short arm or proximal 8p or 9p was observed in squamous cell carcinomas of the head and neck region but not in female genital tract tumors. No other abnormalities appeared to be site specific, suggesting a pattern of genetic evolution in squamous cell carcinoma that is independent of anatomic site.
我们对29例头颈部鳞状细胞癌患者染色体物质的断点、增益和缺失情况进行了特征分析。三分之一的病例对细胞系进行了核型分析，三分之一采用直接制片或早期体外收获，另外三分之一则两者都采用。所有病例均采用GTG显带，大多数病例还采用了C显带以及RBG和AgNOR染色。一些肿瘤接近二倍体，另一些接近四倍体，但许多肿瘤具有混合群体，其中二倍体、四倍体和八倍体亚克隆呈现出基本相同的核型模式。最常见的变化是缺失。影响3p13 - p24、5q12 - q23、8p22 - p23、9p21 - p24和18q22 - q23的缺失在肿瘤中的发生率为40%至60%。女性患者肿瘤中70%出现失活X染色体短臂缺失，男性患者肿瘤中74%出现Y染色体缺失或重排。18q缺失似乎与生存期短有关，多个缺失的存在也是如此。28%至38%的肿瘤中出现3q21 - qter、5p、7p、8q和11q13 - q23的增益（额外2 - 5个拷贝）。三个肿瘤有涉及11q13 - q21的均一染色区。推测11q13处物质的增益与该位点PRADI/CCND基因的扩增有关。在头颈部鳞状细胞癌中观察到近端1p与近端着丝粒短臂或近端8p或9p之间的易位，但在女性生殖道肿瘤中未观察到。没有其他异常表现出部位特异性，这表明鳞状细胞癌的遗传进化模式与解剖部位无关。
