GPNMB expression differentiates subependymal giant cell astrocytoma from other mimickers

Rui Pan; Xiaotong Wang; Ru Fang; Qiuyuan Xia; Xuan Wang; Rusong Zhang; Xue Wei; Nan Wu; Qiu Rao

doi:10.1016/j.anndiagpath.2025.152442

GPNMB expression differentiates subependymal giant cell astrocytoma from other mimickers

Ann Diagn Pathol. 2025 Jan 17:75:152442. doi: 10.1016/j.anndiagpath.2025.152442. Online ahead of print.

Authors

Rui Pan¹, Xiaotong Wang¹, Ru Fang¹, Qiuyuan Xia¹, Xuan Wang¹, Rusong Zhang¹, Xue Wei¹, Nan Wu², Qiu Rao³

Affiliations

¹ Department of Pathology, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, China.
² Department of Pathology, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, China. Electronic address: [email protected].
³ Department of Pathology, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, China. Electronic address: [email protected].

PMID: 39837150
DOI: 10.1016/j.anndiagpath.2025.152442

Abstract

Subependymal giant cell astrocytomas (SEGAs) are neoplasms that exhibit slow growth patterns and are closely associated with tuberous sclerosis complex (TSC). Recent research indicates that TFE3/TFEB-targeted biomarker glycoprotein nonmetastatic B (GPNMB) is upregulated inTSC1/2-related tumours. In this study, we performed molecular analysis on SEGAs and analyzed GPNMB expression in 6 SEGAs, 10 PXAs, 9 GBMs, 8 eGBMs, 8 diffuse astrocytomas, 8 oligodendrogliomas and 7 glioneuronal tumours through immunohistochemistry, 100 % (6/6) of the SEGA cases exhibited positive GPNMB expression, whereas it was negative in all other CNS tumours. The results indicated that GPNMB is specifically expressed in all SEGAs, distinguishing it from other morphologically similar tumours. The findings demonstrate specific GPNMB expression in SEGA, underscoring its promise as a diagnostic biomarker.

Keywords: GPNMB; Subependymal giant cell astrocytoma; Tuberous sclerosis complex; mTOR.