■由于脑肿瘤的复杂性,诊断脑肿瘤至关重要。这篇综述探讨了原位杂交诊断脑肿瘤的潜力。检查它们的属性和在神经病学和肿瘤学中的应用。
■该综述调查了文献,并与OMIM数据库进行了交叉引用,检查513条记录。它确定适合原位杂交的突变,并鉴定脑肿瘤中常见的染色体和基因异常。重点放在突变的临床意义上,包括预后和药物敏感性。
■EGFR扩增,MDM2和MDM4以及Y染色体丢失,7号染色体多体,以及PTEN的缺失,CDKN2/p16、TP53和DMBT1与胶质瘤患者的不良预后相关。神经胶质瘤的保护性遗传改变包括ADGRB3/1、IL12B、DYRKA1,VEGFC,LRRC4和BMP4。MMP24表达升高会使胶质瘤的预后恶化,少突胶质细胞瘤,和脑膜瘤患者。脑膜瘤表现出常见的染色体异常,如染色体1、9、17和22的丢失,其发育涉及特定基因。髓母细胞瘤的主要发生包括同工染色体17q的形成和SHH信号通路的破坏。BARHL1表达的增加与延长生存期相关。对腺瘤突变进行了综述,重点是腺瘤-癌的转变和不同的亚型。MMP9被鉴定为与肿瘤进展有关的主要金属蛋白酶。
■常见脑肿瘤的分子遗传学诊断涉及多种遗传异常。原位杂交显示出诊断和预测肿瘤的前景。检测肿瘤特异性改变对预后和治疗至关重要。然而,许多突变需要其他方法,阻碍原位杂交成为主要的诊断方法。
UNASSIGNED: Diagnosing brain tumors is critical due to their complex nature. This review explores the potential of in situ hybridization for diagnosing brain neoplasms, examining their attributes and applications in neurology and oncology.
UNASSIGNED: The review surveys literature and cross-references findings with the OMIM database, examining 513 records. It pinpoints mutations suitable for in situ hybridization and identifies common chromosomal and gene anomalies in brain tumors. Emphasis is placed on mutations\' clinical implications, including prognosis and drug sensitivity.
UNASSIGNED: Amplifications in EGFR, MDM2, and MDM4, along with Y chromosome loss, chromosome 7 polysomy, and deletions of PTEN, CDKN2/p16, TP53, and DMBT1, correlate with poor prognosis in glioma patients. Protective genetic changes in glioma include increased expression of ADGRB3/1, IL12B, DYRKA1, VEGFC, LRRC4, and BMP4. Elevated MMP24 expression worsens prognosis in glioma, oligodendroglioma, and meningioma patients. Meningioma exhibits common chromosomal anomalies like loss of chromosomes 1, 9, 17, and 22, with specific genes implicated in their development. Main occurrences in
medulloblastoma include the formation of isochromosome 17q and SHH signaling pathway disruption. Increased expression of BARHL1 is associated with prolonged survival. Adenomas mutations were reviewed with a focus on adenoma-carcinoma transition and different subtypes, with MMP9 identified as the main metalloprotease implicated in tumor progression.
UNASSIGNED: Molecular-genetic diagnostics for common brain tumors involve diverse genetic anomalies. In situ hybridization shows promise for diagnosing and prognosticating tumors. Detecting tumor-specific alterations is vital for prognosis and treatment. However, many mutations require other methods, hindering in situ hybridization from becoming the primary diagnostic method.