Nascimento Thatyanne Gradowski F da C do, Poloni Joice de Faria, Thomazini Mateus Eduardo de Oliveira, Cavalli Luciane R, Elifio-Esposito Selene, Feltes Bruno César
Pontifícia Universidade Católica do Paraná, Escola de Medicina, Programa de Pós-Graduação em Ciências da Saúde, Curitiba, PR, Brazil.
Universidade Federal do Rio Grande do Sul, Instituto de Biociências, Departamento de Biofísica, Porto Alegre, RS, Brazil.
Genet Mol Biol. 2024 Sep 2;47(3):e20240007. doi: 10.1590/1678-4685-GMB-2024-0007. eCollection 2024.
Neuroblastoma (NB) is a solid tumor that accounts for 15% of all pediatric oncological deaths, and much is due to the low response to therapy in relapsed tumors. High-risk NB may present deletions in chromosome 11q, which may be associated with other chromosomal alterations and a poor response to therapy, but this association is still poorly understood. Using a systems biology network approach, we studied three patients with high-risk NB with deleted 11q stage 4 to highlight the connections between treatment resistance and copy number alterations in distinct cases. We built different protein-protein interaction networks for each patient based on protein-coding genes mapped at the cytobands pre- and post-chemotherapy from distinct copy number alterations data. In the post-chemotherapy networks, we identified five common regulatory nodes corresponding to the gained region located in ch17q:BIRC5, BRCA1, PRKCA, SUMO2, andGPS1. A crosslink between DNA damage and chromatin remodeling proteins was also found - a connection still poorly understood in NB. We identified a potential connection between XPB gain and chemoresistance of NB. The findings help elucidate the molecular profiles of high-risk NB with 11q deletion in pre- and post-chemotherapy tumor samples, which may reflect unique profiles in poor response to treatment.
神经母细胞瘤(NB)是一种实体瘤,占所有儿童肿瘤死亡病例的15%,很大程度上是由于复发肿瘤对治疗的反应较低。高危NB可能存在11号染色体长臂(11q)缺失,这可能与其他染色体改变及对治疗反应不佳有关,但这种关联仍知之甚少。我们采用系统生物学网络方法,研究了3例11q缺失的高危4期NB患者,以突出不同病例中治疗耐药性与拷贝数改变之间的联系。我们根据化疗前后细胞带中映射的蛋白质编码基因,利用不同的拷贝数改变数据,为每位患者构建了不同的蛋白质-蛋白质相互作用网络。在化疗后的网络中,我们确定了五个与位于17号染色体长臂(ch17q)的获得区域相对应的常见调控节点:BIRC5、BRCA1、PRKCA、SUMO2和GPS1。我们还发现了DNA损伤与染色质重塑蛋白之间的交联——这种联系在NB中仍知之甚少。我们确定了XPB基因增加与NB化疗耐药性之间的潜在联系。这些发现有助于阐明化疗前后肿瘤样本中11q缺失的高危NB的分子特征,这可能反映出对治疗反应不佳的独特特征。