Genetic and Molecular Risk Profiles of Pediatric Malignant Brain Tumors in China

Summary

Primary malignant central nervous system (CNS) tumors are the second most common childhood malignancies. Amongst, medulloblastomas are the most common malignant brain tumor of childhood and occur primarily in the cerebellum. According to molecular characteristics, medulloblastomas were classified into four subtypes: WNT, SHH, Group3 and Group4 and different prognosis were noticed between subgroups. Several genetic predispositions related to clinical outcome were also discovered and might influence the treatment of medulloblastomas as novel pharmaceutical targets. This study aims to investigate genetic and cellular profiles of pediatric brain malignancies, mostly medulloblastomas, and other central nervous system tumor based on WGS, RNA-seq, single-cell sequencing and spatial transcriptomics. We also aim to investigate the correlation between genetic characteristics and clinical prognosis.

Eligibility

Inclusion Criteria:

\- Children and adolescents aged between 0-18 years old, diagnosed with medulloblastoma or other malignant central nervous system tumors including glioma, ependymoma, germ cell tumors,tuberous sclerosis, neuronal and neuronoglial tumors, choroid plexus tumors, atypical teratoid/rhabdoid tumors, ependymoblastoma, and medulloepithelioma;

Patients must be eligible for and receive tumor resection;

Histological examination by institutional neuro-pathological evaluation must confirmed the diagnosis of brain malignancies;

Participants consent with joining the current study and comply with follow-up visits;

The patients must have no previous radiotherapy or chemotherapy other than corticosteroids.

Exclusion Criteria:

\- Patients with major perioperative complications which lead to significant and sudden deterioration;

Patients with major systemic illness (e.g., serious infection or significant cardiac, pulmonary, hepatic, or other organ dysfunction) which might compromise the patient's ability to tolerate standard treatment or would likely interfere with overall prognosis;

Patients with major adverse events or sudden deterioration irrelevant to the current study;

Quality of tumor tissue sample did not meet the criterion for genetic sequencing and laboratory investigations;

Patients who refuse to participate in the study or who request dropping out from the study

Conditions7

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