RNA-Sequencing Combined With Genome-Wide Allele-Specific Expression Patterning Identifies ZNF44 Variants as a Potential New Driver Gene for Pediatric Neuroblastoma

作者全名："Sun, Lan; Li, Xiaoqing; Tu, Lingli; Stucky, Andres; Huang, Chuan; Chen, Xuelian; Cai, Jin; Li, Shengwen Calvin"

作者地址："[Sun, Lan; Li, Xiaoqing; Huang, Chuan] Chongqing Med Univ, Peoples Hosp Bishan Dist, Dept Oncol, Bishan Hosp, Chongqing, Peoples R China; [Tu, Lingli; Stucky, Andres; Chen, Xuelian] Univ Southern Calif, Keck Sch Med, Dept Otolaryngol, Los Angeles, CA USA; [Cai, Jin] Jinan Univ, Zhuhai Peoples Hosp, Dept Oral & Maxillofacial Surg, Zhuhai Hosp, Zhuhai, Peoples R China; [Li, Shengwen Calvin] Childrens Hosp Orange Cty CHOC, CHOC Childrens Res Inst, Ctr Neurosci Res, Neurooncol & Stem Cell Res Lab, Orange, CA USA; [Li, Shengwen Calvin] Univ Calif Irvine, Irvine Sch Med, Dept Neurol, Orange, CA USA; [Cai, Jin] Jinan Univ, Zhuhai Peoples Hosp, Dept Oral & Maxillofacial Surg, Zhuhai Hosp, Zhuhai 519000, Peoples R China; [Li, Shengwen Calvin] Childrens Hlth Orange Cty CHOC, CHOC Childrens Res Inst, Ctr Neurosci Res, Neurooncol & Stem Cell Res Lab, 1201 W Veta Ave, Orange, CA 92868 USA; [Li, Shengwen Calvin] Univ Calif Irvine, Irvine Sch Med, Dept Neurol, Irvine, CA 92697 USA"

通信作者："Cai, J (通讯作者)，Jinan Univ, Zhuhai Peoples Hosp, Dept Oral & Maxillofacial Surg, Zhuhai Hosp, Zhuhai 519000, Peoples R China.; Li, SC (通讯作者)，Childrens Hlth Orange Cty CHOC, CHOC Childrens Res Inst, Ctr Neurosci Res, Neurooncol & Stem Cell Res Lab, 1201 W Veta Ave, Orange, CA 92868 USA.; Li, SC (通讯作者)，Univ Calif Irvine, Irvine Sch Med, Dept Neurol, Irvine, CA 92697 USA."

来源：CANCER CONTROL

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000985082700001

JCR分区：Q3

影响因子：2.5

年份：2023

卷号：30

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：RNA-seq; somatic mutation; neuroblastoma; whole-exome sequencing; allele-specific expression pattern; ZNF44

摘要："IntroductionNeuroblastoma (NB) is one of the children's most common solid tumors, accounting for approximately 8% of pediatric malignancies and 15% of childhood cancer deaths. Somatic mutations in several genes, such as ALK, have been associated with NB progression and can facilitate the discovery of novel therapeutic strategies. However, the differential expression of mutated and wild-type alleles on the transcriptome level is poorly studied.MethodsThis study analyzed 219 whole-exome sequencing datasets with somatic mutations detected by MuTect from paired normal and tumor samples.ResultsWe prioritized mutations in 8 candidate genes (RIMS4, RUSC2, ALK, MYCN, PTPN11, ALOX12B, ZNF44, and CNGB1) as potential driver mutations. We further confirmed the presence of allele-specific expression of the somatic mutations in NB with integrated analysis of 127 RNA-seq samples (of which 85 also had DNA-seq data available), including MYCN, ALK, and PTPN11. The allele-specific expression of mutations suggests that the same somatic mutation may have different effects on the clinical outcomes of tumors.ConclusionOur study suggests 2 novel variants of ZNF44 as a novel candidate driver gene for NB."

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