Clinical Value of Next Generation Sequencing in Chinese Childhood Solid Tumors

Clinical Value of Next Generation Sequencing in Chinese Childhood Solid Tumors: A Multicenter Study

Samples of 200 patients with pediatric malignant solid tumors will prospectively be collected. Selected samples are sufficient for next generation sequencing(NGS) and available for follow-up information. Multi-omics techniques such as DNA and RNA panel will be used to study driver genes for the development of malignant solid tumors in children, and to explore the pathogenic mechanism. The aim of this study is to explore new biomarkers for the diagnosis and treatment for childhood malignant solid tumors.

DNA and RNA extracted from tumor tissues and leukocytes will be analyzed by Onco PanScan/whole exon sequencing(Genetronhealth), and comprehensive gene mutation information such as single nucleotide variation, insertion deletion mutation, gene copy number variants and structure variants will be obtained.

Through in-depth mining of genomic data generated by clinical tumor tissue detection, the differences among different subtypes of pediatric solid tumors in TCGA data will be compared with previous studies. Combined with clinical pathological and molecular subtyping results, auxiliary diagnosis was performed. Analyzing therapeutic targets and identifying pathogenic cancer-predisposing variants may provide molecular reference for children's malignant solid tumors.

Inclusion Criteria:

1. Patients are diagnosed by histology and pathology as pediatric malignant solid tumors (including soft tissue sarcoma, osteosarcoma, pediatric glioma, neuroblastoma, nephroblastoma, retinoblastoma, hepatoblastoma, atypical teratoid/rhabdomymoma, embryonal tumor, etc.);
2. Age: < 18 years old;
3. Eastern Cooperative Oncology Group (ECOG) PS score: 0-2, estimated survival >6 months;
4. Complete clinical laboratory examination and pathological examination information of patients;
5. Patients can be evaluated on time, and samples can be obtained throughout the whole test process;
6. Informed consent signed by the patient or his/her legal representative shall be obtained after the patient is informed of the project;

Exclusion Criteria:

1. As determined by the investigator, the patient had other major diseases that might affect follow-up and short-term survival;
2. Any social/psychological problems that the researcher determines are not suitable for the study;