AUTHOR=Bernstock Joshua D. , Karandikar Paramesh V. , Chen Jason A. , Seidlitz Jakob , Friedman Gregory K. , Meredith David M. , Liu Kevin X. , Haas-Kogan Daphne , Reardon David A. , Peruzzi Pier Paolo 

TITLE=Case Report: Low-grade glioma with NF1 loss of function mimicking diffuse intrinsic pontine glioma

JOURNAL=Frontiers in Surgery

VOLUME=11

YEAR=2024

URL=https://www.frontiersin.org/journals/surgery/articles/10.3389/fsurg.2024.1356660

DOI=10.3389/fsurg.2024.1356660

ISSN=2296-875X

ABSTRACT=<p>Intrinsic, expansile pontine tumors typically occur in the pediatric population. These tumors characteristically present as diffuse intrinsic pontine glioma (DIPG), which is now considered as diffuse midline glioma (DMG), H3K27-mutated of the pons. DIPG has limited treatment options and a poor prognosis, and the value of tissue diagnosis from an invasive biopsy remains controversial. This study presents the case of a 19-year-old female with clinical and imaging hallmarks of DIPG, who underwent a biopsy of a tumor in the region of the right middle cerebellar peduncle. Her lesional cells were negative for H3K27M alterations and had low-grade histologic features. Next-generation sequencing revealed a frameshift mutation in the <italic>NF1</italic> gene as the likely driver mutation. These features suggest a diagnosis of a low-grade glioma associated with <italic>NF1</italic> loss of function, with far-reaching consequences regarding both treatment strategy and prognosis. This case provides support for the utility of diagnostic tissue biopsy in cases of suspected DIPG.</p>