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
.