Pediatric midline H3K27M-mutant tumor with disseminated leptomeningeal disease and glioneuronal features: case report an
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CASE REPORT
Pediatric midline H3K27M-mutant tumor with disseminated leptomeningeal disease and glioneuronal features: case report and literature review Ralph E. Navarro 1 & Danielle Golub 2 Eveline Teresa Hidalgo 1
&
Travis Hill 1 & Michelle W. McQuinn 1 & Christopher William 3 & David Zagzag 1,3 &
Received: 19 July 2020 / Accepted: 16 September 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Background H3K27M-mutant midline lesions were recently reclassified by the World Health Organization (WHO) as “diffuse midline glioma” (DMG) based entirely on their molecular signature. DMG is one of the most common and most lethal pediatric brain tumors; terminal progression is typically caused by local midbrain or brainstem progression, or secondary leptomeningeal dissemination. H3K27M mutations have also been infrequently associated with a histologically and prognostically diverse set of lesions, particularly spinal masses with early leptomeningeal spread. Case presentation A 15-year-old girl after 1 week of symptoms was found to have a T2/FLAIR-hyperintense and contrastenhancing thalamic mass accompanied by leptomeningeal enhancement along the entire neuraxis. Initial infectious workup was negative, and intracranial biopsy was inconclusive. Spinal arachnoid biopsy revealed an H3K27M-mutant lesion with glioneuronal features, classified thereafter as DMG. She received craniospinal irradiation with a boost to the thalamic lesion. Imaging 1-month post-radiation demonstrated significant treatment response with residual enhancement at the conus. Conclusions This case report describes the unique presentation of an H3K27M-mutant midline lesion with significant craniospinal leptomeningeal spread on admission and atypical glioneuronal histopathological markers. With such florid leptomeningeal disease, spinal dural biopsy should be considered earlier given its diagnostic yield in classifying the lesion as DMG. Consistent with similar prior reports, this lesion additionally demonstrated synaptophysin positivity—also potentially consistent with a diagnosis of diffuse leptomeningeal glioneuronal tumor (DLGNT). In atypical DMG cases, particularly with leptomeningeal spread, further consideration of clinical and histopathological context is necessary for accurate diagnosis and prognostication. Keywords Diffuse intrinsic pontine glioma . Diffuse midline glioma . Leptomeningeal disease . Glioneuronal Ralph E. Navarro and Danielle Golub contributed equally to this work and should be considered co-primary authors. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00381-020-04892-0) contains supplementary material, which is available to authorized users. * Danielle Golub [email protected] 1
Division of Pediatric Neurosurgery, Department of Neurosurgery, NYU Grossman School of Medicine, NYU Langone Health, New York, NY, USA
2
Department of Neurosurgery, Zucker School of Medicine at Hofstra/ Northwell, Northwell Health, 300 Community Drive, 9 Tower, Manhasset, NY
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