Evidence map›Paper›PMID 39912368›Full record

ArticleCancer cytopathology2025

Cytomorphology and clinicopathologic correlation of TFE3-rearranged renal cell carcinoma.

Tieying Hou, Xiaoqi Lin

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Article in Cancer cytopathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

2 authors.

Tieying HouDepartment of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Xiaoqi LinDepartment of Pathology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.ORCID 0000-0002-0760-3950

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTFE3-rearranged renal cell carcinoma (TFE3-rRCC) harbors gene fusions involving TFE3 with one of many different partner genes. Because of their diverse morphologies, the differential diagnosis is broad and challenging. Publications focusing on the cytomorphology of TFE3-rRCC are sparse.

methodsFifteen cytology cases of TFE3-rRCC from 12 patients were retrieved, comprising seven primary kidney cases and eight metastatic cases.

resultsCytology smears showed tumor cells with moderate granular or vacuolated cytoplasm, arranged in diverse patterns, such as three-dimensional clusters, nested/sheeted formations, isolated cells, papillary, and tubular/acinar structures. The tumor cells exhibited enlarged eccentric, round or oval nuclei, possibly situated peripherally, with small to prominent nucleoli and irregular nuclear membranes. Macrophages, hyalinized globules, or necrosis were occasionally seen. Core and cell block histology often showed papillae with surface-oriented nuclei. Tumor cells were also arranged in nested, sheeted, and tubular patterns. Tumor cells were immunoreactive to TFE3 (100%), AMACR (100%), PAX8 (88%), and CD10 (83%) and showed focal staining for CA9 (64%), CK7 (20%), and CD117 (25%). TFE3 rearrangement was confirmed in 13 of 15 cases through fluorescence in situ hybridization or RNA fusion next-generation sequencing testing. Metastasis was observed in nine of 12 patients (80%), with retroperitoneal lymph nodes being the most common site, followed by distant lymph nodes, lung, brain, adrenal gland, and bone. Six patients (50%) underwent nephrectomy alone, two patients (17%) received chemotherapy alone, and four patients (33%) received combined nephrectomy and chemotherapy.

conclusionsTimely recognition of TFE3-rRCC's distinct cytomorphologic and histomorphologic features is essential for accurate diagnosis and effective treatment.

Indexed as

Basic Helix-Loop-Helix Leucine Zipper Transcription FactorsBiomarkers, TumorCarcinoma, Renal CellGene RearrangementKidney NeoplasmsAdultAgedDiagnosis, DifferentialFemaleHumansIn Situ Hybridization, FluorescenceMaleMiddle AgedBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBiomarkers, TumorTFE3 protein, humanclinicopathologic correlationcytomorphologyimmunohistochemistrymolecular testrenal mass biopsyTFE3‐rearranged renal cell carcinoma

Identifiers

PMID39912368
PMCPMC11800173

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