Increased prevalence of brain tumors classified as T2 hyperintensities in neurofibromatosis 1

Neurology. Clinical Practice
Jennifer L GriffithDavid H Gutmann

Abstract

We sought to define the radiologic features that differentiate neoplastic from non-neoplastic T2 hyperintensities (T2Hs) in neurofibromatosis type 1 (NF1) and identify those lesions most likely to require oncologic surveillance. We conducted a single-center retrospective review of all available brain MRIs from 68 children with NF1 (n = 190) and 46 healthy pediatric controls (n = 104). All T2Hs identified on MRI were characterized based on location, border, shape, degree of T1 hypointensity, and presence of mass effect or contrast enhancement, and subsequently classified using newly established radiologic criteria as either unidentified bright objects (UBOs) or probable tumors. Lesion classification was pathologically confirmed in 10 NF1 cases. T2Hs were a highly sensitive (94.4%; 95% confidence interval [CI] 86.4%-98.5%) and specific (100.0%; 95% CI 92.3%-100.0%) marker for the diagnosis of NF1. UBOs constituted the majority of T2Hs (82%) and were most frequently located in cerebellar white matter, medial temporal lobe, and thalamus, where they were more likely than probable tumors to be bilateral (p < 0.001) and have nondiscrete borders (p < 0.001). Surprisingly, 57% of children with T2Hs harbored lesions classified as probabl...Continue Reading

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Citations

Apr 18, 2020·Neurology·Jasia MahdiDavid H Gutmann
Feb 6, 2020·Orphanet Journal of Rare Diseases·Christina BergqvistUNKNOWN NF France Network
May 3, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Michael Bayat, Allan Bayat
Jul 6, 2019·Clinical Nuclear Medicine·Francisco José Pena PardoAna María García Vicente
Jun 14, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Hildegard Kehrer-SawatzkiVictor-Felix Mautner
Oct 18, 2019·Journal of Muscle Research and Cell Motility·Janis StavusisAikaterini Kontrogianni-Konstantopoulos
Jul 3, 2021·Cancers·Laurence PacotEric Pasmant

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