Novel loss of function mutation in KRIT1/CCM1 is associated with distinctly progressive cerebral and spinal cavernous malformations after radiochemotherapy for intracranial malignant germ cell tumor.

Alexandra RussoMarie Astrid NeuJohanna TheruvathBettina KronArthur WingerterSilla Hey-KochYasemin TanyildiziJoerg Faber

Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2017)

We describe a patient with a novel heterozygous germ line loss of function mutation in KRIT1, which is associated with rapid-onset and highly progressive CCMs after radiochemotherapy for a malignant brain tumor.

Keyphrases

germ cell
multiple sclerosis
locally advanced
early onset
subarachnoid hemorrhage
squamous cell carcinoma
radiation therapy
brain injury