ABSTRACT
Diffuse intrinsic pontine gliomas are lethal tumors with a prognosis generally less than 1 year. Few cases of survivors of 5 years or more have been reported. This case report highlights the journey of a 9.5-year survivor who underwent 3 rounds of focal radiotherapy; she experienced 6 years of progression-free survival following the first round but ultimately succumbed to her disease. An autopsy revealed a favorable IDH1 mutation and the absence of H3K27M. This case reiterates the importance of extensive molecular analyses in diffuse intrinsic pontine gliomas and explores the potential benefit of re-irradiation in patients with positive responses and long periods of remission.
Subject(s)
Brain Stem Neoplasms , Diffuse Intrinsic Pontine Glioma , Humans , Female , Brain Stem Neoplasms/pathology , Brain Stem Neoplasms/therapy , Brain Stem Neoplasms/mortality , Diffuse Intrinsic Pontine Glioma/pathology , Diffuse Intrinsic Pontine Glioma/therapy , Diffuse Intrinsic Pontine Glioma/genetics , Child , Survivorship , Cancer Survivors , Fatal Outcome , Isocitrate Dehydrogenase/genetics , Prognosis , MutationABSTRACT
Pediatric intracranial sarcomas are rare, aggressive tumors with a poor prognosis in general. Here we report the case of a child who was initially diagnosed with a primary intracranial sarcoma, DICER1-mutant; subsequent genetic analyses confirmed a pathogenic germline DICER1 mutation. She received multimodal standard treatments consisting of surgery, radiotherapy and chemotherapy. The tumor recurred 2.5 years later within the surgical cavity. Following the gross tumor resection of this new lesion, the same multimodal standard approach was used. From a molecular perspective, evidence of hyperactivation of the MAPK-kinase pathway with a pathogenic KRAS mutation at both diagnosis and recurrence was present. The patient is currently in remission, 18 months post-end of treatment.
Subject(s)
Brain Neoplasms , DEAD-box RNA Helicases , Neoplasm Recurrence, Local , Ribonuclease III , Sarcoma , Humans , Ribonuclease III/genetics , DEAD-box RNA Helicases/genetics , Female , Brain Neoplasms/genetics , Brain Neoplasms/diagnostic imaging , Neoplasm Recurrence, Local/genetics , Sarcoma/genetics , Mutation/genetics , ChildABSTRACT
We report the case of a 14-year-old boy with a steroid-dependent refractory tumor whose longstanding dexamethasone treatment was successfully discontinued after a course of bevacizumab. The use of bevacizumab despite the absence of clear evidence of radionecrosis allowed a significant decrease in the amount of the brain edema.
