González M V, Pello M F, López-Larrea C, Suárez C, Menéndez M J, Coto E
Laboratorio de Genética Molecular, Servicio de Otorrinolaringología, Hospital Central Universitario de Asturias, 33006 Oviedo, Spain.
Clin Cancer Res. 1995 Sep;1(9):1043-9.
We analyzed allelic loss at the p53 gene (17p13) and at chromosome region 9p21 in 35 primary head and neck squamous cell carcinomas. Loss of heterozygosity (LOH) at p53 and 9p21 was found in 50 and 75% of informative cases, respectively. LOH at the p53 gene did not increase significantly with tumor stage, but was more frequent in moderately and poorly differentiated tumors than in well-differentiated tumors. LOH plus mutation or homozygous deletion of p53 was limited to advanced stage and poorly differentiated tumors. Allelic loss at 9p21 is frequent in early stage head and neck squamous cell carcinoma and is not significantly associated with LOH at p53. The second exon of the p16/MTS1/CDKN2 gene was found to be homozygously deleted in 1 of 19 cases showing LOH at 9p21, but direct sequencing did not show mutations in the remaining 18 cases. This suggests that p16 plays a limited role in the development of head and neck squamous cell carcinoma.
我们分析了35例原发性头颈部鳞状细胞癌中p53基因（17p13）和9号染色体区域9p21的等位基因缺失情况。在有信息可查的病例中，p53和9p21杂合性缺失（LOH）的发生率分别为50%和75%。p53基因的LOH并不随肿瘤分期显著增加，但在中分化和低分化肿瘤中比高分化肿瘤更常见。p53的LOH加突变或纯合缺失仅限于晚期和低分化肿瘤。9p21的等位基因缺失在早期头颈部鳞状细胞癌中很常见，且与p53的LOH无显著相关性。在19例显示9p21 LOH的病例中，有1例p16/MTS1/CDKN2基因的第二个外显子纯合缺失，但其余18例直接测序未显示突变。这表明p16在头颈部鳞状细胞癌的发生发展中作用有限。
