Hardisson David, Alvarez-Marcos César, Salas-Bustamante Ana, Alonso-Guervós Marta, Sastre Noelia, Sampedro Andrés
Department of Pathology, Hospital Universitario La Paz, Autonomous University of Madrid, Paseo de la Castellana 261, E-28046 Madrid, Spain.
Oral Oncol. 2004 Apr;40(4):409-17. doi: 10.1016/j.oraloncology.2003.09.008.
Squamous cell carcinoma of the pharynx and larynx (SCCPL) is a genetically complex disease and is frequently associated with nonrandom chromosomal alterations. Fifty primary SCC of the pharynx (oropharynx, n=11): see and hypopharynx, n=11) and larynx ( n=28) were examined for numerical aberrations of chromosomes 8, 9, 11, and 17 with a panel of chromosome-specific repetitive DNA probes by fluorescence in situ hybridization (FISH). DNA ploidy analysis was also performed by flow cytometry (FCM). Aneusomic copy numbers of chromosomes 8, 9, 11, and 17 were discovered in 66%, 68%, 68% and 78% of tumors, respectively. FCM showed abnormal DNA content in 74% of cases (mean DNA index=1.69). Polysomy was the main finding in both DNA-aneuploid and DNA-diploid tumors (64.5% of cases). Numerical aberrations of chromosomes 8 and 11 correlated to DNA ploidy by FCM (P< 0.05). Aneusomy was present in 69.23% of DNA-diploid tumors. Marked intratumoral and intertumoral chromosomal heterogeneity was noted between individual tumors, suggesting a notable heterogeneity in aneuploid and diploid cell populations. Interphase FISH can be used to study important cytogenetic changes which occur during the development of SCC of the pharynx and larynx.
咽喉部鳞状细胞癌（SCCPL）是一种基因复杂的疾病，常伴有非随机染色体改变。采用一组染色体特异性重复DNA探针，通过荧光原位杂交（FISH）技术，对50例原发性咽喉部鳞状细胞癌（其中口咽癌11例、下咽癌11例、喉癌28例）的8号、9号、11号和17号染色体的数目畸变情况进行检测。同时，采用流式细胞术（FCM）进行DNA倍体分析。结果发现，分别有66%、68%、68%和78%的肿瘤存在8号、9号、11号和17号染色体的非整倍体拷贝数。FCM显示74%的病例存在异常DNA含量（平均DNA指数=1.69）。多倍体是DNA非整倍体和DNA二倍体肿瘤的主要特征（占病例的64.5%）。8号和11号染色体的数目畸变与FCM检测的DNA倍体相关（P<0.05）。69.23%的DNA二倍体肿瘤存在非整倍体。在个体肿瘤之间观察到明显的肿瘤内和肿瘤间染色体异质性，提示非整倍体细胞群体和二倍体细胞群体存在显著异质性。间期FISH可用于研究咽喉部鳞状细胞癌发生过程中重要的细胞遗传学变化。
