Case report
A previously healthy 10-year old boy presented with 2 weeks of ataxia and left facial palsy. Brain MRI showed an expansive T1 hypointense/T2 hyperintense non-enhancing diffuse infiltrating mass located within the pons, images compatible with a DIPG. No leptomeningeal dissemination was identified at diagnosis (Fig. 1A).
An open biopsy was performed as part of our institutional precision oncology program for tumors with unfavorable prognosis without complications. The histology and molecular studies confirmed a K27M mutated diffuse midline glioma (H3.3), TP53 wild type. No therapeutic targets were identified.
He initiated treatment with normofractionated focal irradiation up to a total dose of 54Gy. Treatment was well tolerated with marked clinical improvement, being able to perform daily life activities and discontinuing steroids by the end of irradiation. No adjuvant therapy was administered.
Ten months after the end of radiation, a surveillance MRI showed subtle local progression associated with leptomeningeal dissemination with multiple new intraventricular nodules identified in several MRI sequences. The patient was asymptomatic, so closely follow-up without treatment was recommended.
Five months later, patient developed slight worsening of ataxia and left facial palsy. The MRI showed progressive disease both locally and metastatically. (Fig. 1C) (Fig. 2A)
He initiated palliative CSI receiving 21,6 Gy with good tolerance and clinical improvement. The MRI after reRT showed a good response of all lesions. (Fig. 1D)(Fig. 2B).
Importantly, quality of life remained good and patient could go back to normal day activities.
Four months after the end of the reRT, neurologic symptoms (left hemiparesis and ataxia) worsened with subsequent MRI showing disease progression.
Patient died of disease at home followed closely by our pediatric palliative care team 24 months after diagnosis, 12 months after first radiologic metastatic progression, and 6 months after craniospinal reRT .