Pećina-Slaus Nives, Zeljko Martina, Pećina Hrvoje Ivan, Nikuseva Martić Tamara, Bacić Niko, Tomas Davor, Hrasćan Reno
Laboratory of Neurooncology, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Salata 12, HR-10000 Zagreb, Croatia.
Croat Med J. 2012 Aug;53(4):321-7. doi: 10.3325/cmj.2012.53.321.
To identify gross deletions in the NF2 gene in a panel of schwannomas from Croatian patients in order to establish their frequencies in Croatian population.
Changes of the NF2 gene were tested by polymerase chain reaction/loss of heterozygosity (LOH) using two microsatellite markers, D22S444 and D22S929.
The analysis with both markers demonstrated that 43.75% of schwannomas exhibited LOH of the NF2 gene. The D22S444 region exhibited 45.5% of LOHs and the D22S929 region exhibited 14.3% of LOHs. Four LOHs were found in Antoni B, 2 in Antoni A, and 1 in Antoni A and B type tumors.
The frequency of changes observed in Croatian patients is broadly similar to that reported in other populations and thus confirms the existing hypothesis regarding the tumorigenesis of schwannomas and contributes to schwannoma genetic profile helping us to better understand its etiology and treatment.
在一组来自克罗地亚患者的神经鞘瘤中鉴定NF2基因的大片段缺失，以确定其在克罗地亚人群中的频率。
使用两个微卫星标记D22S444和D22S929，通过聚合酶链反应/杂合性缺失（LOH）检测NF2基因的变化。
两个标记的分析均表明，43.75%的神经鞘瘤表现出NF2基因的杂合性缺失。D22S444区域杂合性缺失率为45.5%，D22S929区域杂合性缺失率为14.3%。在Antoni B型肿瘤中发现4例杂合性缺失，在Antoni A型肿瘤中发现2例，在Antoni A和B混合型肿瘤中发现1例。
在克罗地亚患者中观察到的变化频率与其他人群报道的大致相似，从而证实了关于神经鞘瘤肿瘤发生的现有假说，并有助于完善神经鞘瘤的遗传图谱，帮助我们更好地理解其病因和治疗方法。
