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Article

Xanthomatous giant cell renal cell carcinoma: clinicopathologic and molecular characterization of 2 additional cases with biallelic TSC2 mutations.

American journal of clinical pathology - 1 Dec 2025

Chen Qiancheng, Wang Heli, Wang Suying, Zhang Huizhi, Ru Guoqing, Zhao Ming

Abstract excerpt

OBJECTIVE: To characterize the clinicopathologic, immunohistochemical, and molecular features of 2 new cases of xanthomatous giant cell renal cell carcinoma, a rare TSC2/MTOR-altered renal neoplasm. METHODS: Both tumors underwent histologic evaluation, immunohistochemical profiling, and DNA-based targeted next-generation sequencing. Fluorescence in situ hybridization for TFE3 rearrangement was performed in 1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41237373
DOI: 10.1093/ajcp/aqaf129

Genes

TSC2
MTOR
GPNMB
PAX8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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