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MYC and TP53 aberrant of CSF tumor cells in children with metastatic medulloblastoma


 Background: Medulloblastoma (MB) is the most common primary malignant brain tumor in childhood. MYC and TP53 aberrant is the high risk factor for its prognosis, but its values in tumor cells of CSF has not been reported.Methods: During October 1, 2012 to April 10, 2020, a total of 185 metastatic MB were enrolled in this study, CSF cytology and MYC and TP53 aberrant statuses were analyzed.Results: We found that forty-two patients were positive presence of tumor cells in CSF, and 39 cases were positive with MYC or TP53 aberrant, which was present in about 66% of Group 3 MB. The PFS and OS rates of patients with positive gene aberrant were much lower than that of negative aberrant group (P<0.01), and MYC and TP53 aberrant of tumor cells in CSF was high independent risk factor for OS of metastatic patients (95% CI was 0.266-0.998, P<0.05).Conclusion: Thus detection of MYC and TP53 aberrant of tumor cells in CSF could be an important method to complement detection of surgical specimen, and can improve the molecular diagnosis.