The chromosomal region 12q13-15 is rich in oncogenes and contains several genes involved in the pathogenesis of various mesenchymal neoplasms. Notable genes in this region includeMDM2,CDK4,STAT6,DDIT3, andGLI1. Amplification ofMDM2andCDK4genes can be detected in various mesenchymal and nonmesenchymal neoplasms. Therefore, gene amplification alone is not entirely specific for making a definitive diagnosis and requires the integration of clinical, radiological, morphological, and immunohistochemical findings. Neoplasms withGLI1alterations may exhibit eitherGLI1rearrangements or amplifications of this gene. Despite the diagnostic implications that the overlap of genetic alterations in neoplasms with changes in genes within the 12q13-15 region could create, the discovery of coamplifications ofMDM2withCDK4andGLI1offers new therapeutic targets in neoplasms withMDM2/CDK4amplification. Lastly, it is worth noting thatMDM2orCDK4amplification is not exclusive to mesenchymal neoplasms; this genetic alteration has also been observed in other epithelial neoplasms or melanomas. This suggests the potential use ofMDM2orCDK4inhibitors in neoplasms where alterations in these genes do not aid the pathological diagnosis but may help identify potential therapeutic targets. In this review, we delve into the diagnosis and therapeutic implications of tumors with genetic alterations involving the chromosomal region 12q13-15, mainlyMDM2,CDK4, andGLI1.
染色体12q13-15区域富含癌基因，包含多个参与多种间叶性肿瘤发病机制的基因。该区域的显著基因包括MDM2、CDK4、STAT6、DDIT3和GLI1。MDM2和CDK4基因的扩增可在多种间叶性和非间叶性肿瘤中检测到。因此，仅凭基因扩增本身并不完全具有确诊特异性，需要结合临床、影像学、形态学及免疫组化结果进行综合判断。携带GLI1基因改变的肿瘤可能表现为GLI1重排或该基因的扩增。尽管12q13-15区域内基因改变在肿瘤中的重叠可能带来诊断上的复杂性，但MDM2与CDK4及GLI1共扩增的发现，为存在MDM2/CDK4扩增的肿瘤提供了新的治疗靶点。最后值得注意的是，MDM2或CDK4扩增并非间叶性肿瘤所特有，这种基因改变也见于其他上皮性肿瘤或黑色素瘤。这表明MDM2或CDK4抑制剂可能应用于那些基因改变虽无助于病理诊断、但有助于识别潜在治疗靶点的肿瘤。本文综述将深入探讨涉及12q13-15染色体区域（主要是MDM2、CDK4和GLI1基因）遗传学改变肿瘤的诊断意义与治疗前景。
肿瘤(癌症)患者之家