Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma

Abstract

Two unrelated female infants presented at 9 days and 2 months, respectively, with apneic episodes in the former and gaze preference in the latter. MRI revealed enlargement of almost the entire right hemisphere, apparently smooth cortex, simplification of the gyral pattern, and expanded white matter with abnormal signal intensity containing multiple intraparenchymal cysts. Histologic examination of both cases revealed white matter infiltration by a hypocellular lesion composed of uniform, fibrillary astrocytes in a microcystic background. Multilocular tumor cysts were prominent, but Rosenthal fibers and eosinophilic granular bodies were absent. Very rare mitoses were seen in the absence of necrosis or vascular change. There was no convincing cortical infiltration, but the subpial zone was diffusely expanded by a band of astrocytes set in a dense fibrillar feltwork which opened out into numerous cystic spaces. No desmoplastic changes or associated atypical ganglion cells were identified. There was no evidence for a BRAFKIAA1549 fusion or BRAF mutation in one case tested. In conclusion, both lesions are not desmoplastic infantile astrocytoma/ganglioglioma, fibrillary astrocytoma, or typical for pilocytic astrocytoma. Such extreme subpial spread with cysts is most unusual and may suggest a novel variant of infantile astrocytoma.