Long-term survival of a patient with metastatiс choroid plexus carcinoma, de novo germline TP53 mutated, after craniospinal proton irradiation

Abstract

Here we report a boy with disseminated choroid plexus carcinoma diagnosed at an age of 2 years 9 months on the background of de novo germline mutation in ТР53. The patient received 3 cycles of high-dose methotrexate-based chemotherapy and 4 cycles of alternating carboplatin/cyclophosphamide chemotherapy, followed by craniospinal proton beam irradiation. To date, the patient lives with neither progression of the disease nor other extracranial neoplasms for 6 years from the diagnosis. This is the first successful experience of proton irradiation therapy affording long-term survival in a child with Li-Fraumeni syndrome-associated choroid plexus carcinoma.