2025/05/27 by Monica Ospina‐Romero, Monica Ospina-Romero, Shaan M Raza +6
Biochemistry, Genetics and Molecular Biology · Medicine · #Hedgehog Signaling Pathway Studies #Neurofibromatosis and Schwannoma Cases #Chromatin Remodeling and Cancer
paper · doi:10.1093/jnen/nlaf069
To the Editor: Glioma-associated oncogene 1 (GLI1), first reported in glioblastoma in the late 1980s, encodes a zinc finger protein that has been shown to play a pivotal role in regulating target proteins of the sonic hedgehog signaling pathway.1 Recently, a group of pericytoma-like mesenchymal tumors with distinct morphologic and immunohistochemical profile harboring either a GLI1 fusion or amplification has been increasingly reported in the literature.2–6 These tumors were initially considered to display indolent behavior until recent publications showed that those with GLI1 amplification might have less favorable outcomes than those with GLI1 fusion.4 Long-term follow-up studies to understand better their clinical behavior and prognosis are currently lacking, however. These unique tumors commonly arise in the head and neck region with a predilection for the tongue. Reports of GLI1-altered tumors occurring in the gynecologic tract, or soft tissue of the extremities or trunk, among other anatomic sites have been reported, including 1 singular report of a GLI1-amplified tumor of the central nervous system (CNS) involving the V3 portion of the trigeminal nerve in the temporal lobe.4 We report a second case of a GLI1-altered tumor of the CNS, presenting as a dural-based mass, thus adding to the differential diagnostic consideration of dural-based spindle cell tumors and contributing to the literature regarding these rare mesenchymal tumors.