Dept. of Pathology, Christian-Albrechts-University, University Hospital Schleswig-Holstein, Arnold-Heller-Str. 3, Haus U33, D-24105, Kiel, Germany.
Virchows Arch. 2023 Dec;483(6):795-807. doi: 10.1007/s00428-023-03674-8. Epub 2023 Oct 11.
The MDM2 proto-oncogene (MDM2) is a primary negative regulator of p53. The latter is frequently mutated in gastric cancer (GC). In the present study, we aimed to validate gene amplification, protein expression, and the putative tumor biological function of MDM2 in a well-characterized Western GC cohort. MDM2 amplification and protein expression were studied in a cohort of 327 GCs by fluorescence in situ hybridization (FISH) and immunohistochemistry. Gene amplification and protein expression were correlated with diverse clinicopathological patient characteristics including patient outcome. Immunohistochemically, 97 GCs (29.7%) were categorized as MDM2 positive and 230 GCs (70.3%) as negative. An amplification of MDM2 was found in 11 (3.4%) cases without evidence of intratumoral heterogeneity. Nine of these eleven (81.8%) cases showed MDM2 protein expression. MDM2 amplification correlated significantly with MDM2 protein expression (p < 0.001). On a case-by-case analysis, MDM2-amplified cases showed varied histological phenotypes and were most commonly microsatellite stable; EBV, HER2, and MET negative; and FGFR2 positive. A single case harbored both, MDM2 amplification and TP53 mutation. MDM2 amplification and MDM2 expression, respectively, did not correlate with overall or tumor-specific survival. Our targeted analysis of MDM2 in a well-characterized cohort of GC patients showed that MDM2 amplification is rare, of no specific histological phenotype, and may not be always mutually exclusive with TP53 mutations. Given the low number of cases, currently, no diagnostic or therapeutic recommendation related to MDM2 amplification can be given for GC of Western origin.
MDM2 原癌基因(MDM2)是 p53 的主要负调控因子。后者在胃癌(GC)中经常发生突变。在本研究中,我们旨在通过荧光原位杂交(FISH)和免疫组织化学方法在一个经过充分特征描述的西方 GC 队列中验证 MDM2 的基因扩增、蛋白表达和潜在的肿瘤生物学功能。
在 327 例 GC 中通过荧光原位杂交(FISH)和免疫组织化学研究 MDM2 扩增和蛋白表达。将基因扩增和蛋白表达与包括患者预后在内的各种临床病理患者特征进行相关分析。免疫组织化学分析显示,97 例 GC(29.7%)被归类为 MDM2 阳性,230 例 GC(70.3%)为阴性。11 例(3.4%)无肿瘤内异质性证据的病例发现 MDM2 扩增。其中 9 例(81.8%)显示 MDM2 蛋白表达。MDM2 扩增与 MDM2 蛋白表达显著相关(p < 0.001)。在逐个病例分析中,MDM2 扩增病例显示出不同的组织学表型,最常见的是微卫星稳定;EBV、HER2 和 MET 阴性;FGFR2 阳性。仅 1 例病例同时存在 MDM2 扩增和 TP53 突变。MDM2 扩增和 MDM2 表达分别与总生存期或肿瘤特异性生存期无关。
我们对经过充分特征描述的 GC 患者队列中 MDM2 的靶向分析表明,MDM2 扩增罕见,无特定的组织学表型,并且可能不总是与 TP53 突变相互排斥。鉴于病例数量较少,目前不能为西方起源的 GC 提供与 MDM2 扩增相关的诊断或治疗建议。