Subramaniam Manish M, Noguera Rosa, Piqueras Marta, Navarro Samuel, López-Guerrero Jose A, Llombart-Bosch Antonio
Department of Pathology, Medical School, University of Valencia, Spain.
Am J Clin Pathol. 2006 Dec;126(6):866-74. doi: 10.1309/E2AAY2XXN431WL81.
We assessed the frequency of genomic deletion of p16INK4A (CDKN2A) in synovial sarcomas (SSs) and its possible association with immunoexpression of p16 and cyclin D1 and the Ki-67 proliferation index using dual-color fluorescence in situ hybridization (FISH) on tissue microarray sections of 41 histologically and molecularly confirmed SSs. A heterozygous p16INK4A gene deletion was identified in 28 (74%) of 38 cases, with 25 (89%) of them showing abnormal p16 protein expression (20 negative and 5 heterogeneous). Of 25 cases, 19 (76%) exhibiting increased cyclin D1expression also demonstrated heterozygous p16INK4A deletion. No significant association was observed between p16INK4A deletion and Ki-67 proliferation index, tumor grade, or histologic subtype. Our results demonstrate that p16INK4A (CDKN2A) gene deletion is a frequent genetic event in SS.
我们利用双色荧光原位杂交(FISH)技术,对41例经组织学和分子学确诊的滑膜肉瘤(SS)组织芯片切片进行检测,评估p16INK4A(CDKN2A)基因在滑膜肉瘤中的基因组缺失频率,及其与p16和细胞周期蛋白D1免疫表达以及Ki-67增殖指数的可能关联。在38例病例中的28例(74%)检测到杂合性p16INK4A基因缺失,其中25例(89%)显示p16蛋白表达异常(20例阴性和5例不均一)。在25例病例中,19例(76%)细胞周期蛋白D1表达增加者也显示杂合性p16INK4A缺失。未观察到p16INK4A缺失与Ki-67增殖指数、肿瘤分级或组织学亚型之间存在显著关联。我们的结果表明,p16INK4A(CDKN2A)基因缺失是滑膜肉瘤中常见的遗传事件。