2. Academic Validation
  3. Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children

Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children

  • Front Oncol. 2021 Apr 21:11:669560. doi: 10.3389/fonc.2021.669560.
Jie Liu 1 2,  Chengwen Gao 3,  Liping Wang 4,  Xuemin Jian 5,  Mingdi Ma 1,  Tong Li 1,  XiWei Hao 1,  Qian Zhang 3,  Yuanbin Chen 4,  Jing Zhao 1,  Haitao Niu 6,  Chengzhan Zhu 7 8 9,  Jie Zhao 8 9 10,  Nan Xia 8 9 10,  Zhiqiang Li 3,  Qian Dong 1
Affiliations

Affiliations

  • 1 Department of Pediatric Surgery, Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China.
  • 2 Department of Pediatric Surgery, Yijishan Hospital of Wannan Medical College, Wannan Medical College, Wuhu, China.
  • 3 Laboratory of Medical Biology, Medical Research Center, The Affiliated Hospital of Qingdao University & The Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao, China.
  • 4 Key Laboratory, Department of Urology and Andrology, Medical Research Center, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China.
  • 5 Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, China.
  • 6 Department of Urology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, China.
  • 7 Department of Hepatobiliary and Pancreatic Surgery, The Affiliated Hospital of Qingdao University, Qingdao, China.
  • 8 Institute of Digital Medicine and Computer-assisted Surgery, Qingdao University, Qingdao, China.
  • 9 Shandong Provincial Key Laboratory of Digital Medicine and Computer-assisted Surgery, Qingdao University, Qingdao, China.
  • 10 Shandong College Collaborative Innovation Center of Digital Medicine Clinical Treatment and Nutrition Health, Qingdao University, Qingdao, China.
PMID: 33968779 DOI: 10.3389/fonc.2021.669560
Abstract

Hepatoblastoma (HB) is the most common malignant tumor in the liver of infants and young children. The incidence rate varies among different populations. However, genetic differences in HB patients with different epidemiological and ancestral backgrounds have not been found. In this study, we aim to analyze data from 16 patients treated at our center and collected published data from whole-exome Sequencing studies on HB, and to explore the genetic differences between races. Data from a total of 75 HB patients of three races (24 Asian, 37 Caucasian and 14 Hispanic) were analyzed. We identified 16 genes with recurrent somatic mutations and 7 core pathway modules. Among them, the Wnt/β-catenin pathway had the highest mutation rate, and the mutation frequency in Caucasians and Hispanics was approximately twice as high as that in Asians. In addition, this study compared the characteristics of gene mutations between patients who underwent preoperative chemotherapy and those who did not and found that there was no significant difference in gene mutations between the two groups. We also preliminarily verified the function of cancer-associated candidate genes (CTNNB1 and KMT2D). In conclusion, we found ethnic differences in HB biology at the genomic level, which expands our understanding of the genetics of HB in children.

Keywords

children; hepatoblastoma; landscape; somatic mutation; whole-exome sequencing.

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