Cytomorphology and clinicopathologic correlation of TFE3-rearranged renal cell carcinoma

IF 2.6 3区医学 Q3 ONCOLOGY Cancer Cytopathology Pub Date : 2025-02-06 DOI:10.1002/cncy.22933

Tieying Hou MD, PhD, Xiaoqi Lin MD, PhD

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Abstract

Background

TFE3-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.

Methods

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

Results

Cytology 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.

Conclusions

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

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来源期刊

Cancer Cytopathology 医学-病理学

CiteScore

7.00

自引率

17.60%

发文量

130

审稿时长

1 months

期刊介绍： Cancer Cytopathology provides a unique forum for interaction and dissemination of original research and educational information relevant to the practice of cytopathology and its related oncologic disciplines. The journal strives to have a positive effect on cancer prevention, early detection, diagnosis, and cure by the publication of high-quality content. The mission of Cancer Cytopathology is to present and inform readers of new applications, technological advances, cutting-edge research, novel applications of molecular techniques, and relevant review articles related to cytopathology.