GLI1-altered mesenchymal tumor and review of literature
GAO Min
WEN Yu-ying
ZHANG Li-jun
ZHENG Xiao-ling
Abstract：Objective To study the clinicopathologic features and the differential diagnosis of GLI1-altered mesenchymal tumor.Methods The pathological features of 2 cases of GLI1-altered mesenchymal tumor with immunohistochemical and histopathology examinations retrospectively analysd with review related literatures.Results Histologically,tumors revealed ovoid to epithelioid cells arranged in a distinctive nested-trabecular pattern,with scant to moderate amount of cytoplasm and separated by thin septa and a delicate vascular network.Vessel invasion or subendothelial protrusion into the vascular space was commonly present.The tumor cells had a moderate amount of light eosinophilic to lucent cytoplasm with uniform round nuclei containing fine chromatin and small nucleoli.Immunohistochemically,two cases were positive for CD56,MDM2 and CDK4,diffuse and strong staining and both cases exhibited negative expression for S100 protein.High level GLI1 gene amplifications were detected,often being co-amplified with nearby genes located on the 12q13-q15 region,such as MDM2,DDIT3 genes.The GLI1 break-apart gene was negative.Both of the two patients were disease-free at the last follow-up.Conclusion GLI1-altered mesenchymal tumor is an emerging tumor entity with unique morphological and cytogenetic characteristics.
Keywords：GLI1 gene amplificationsGLI1 rearrangementMDM2Mesenchymal tumorPericytoma
Publication Date：2025-03-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 291-296 )