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Underexpression of hepatocyte nuclear factor-1[beta] in chromophobe renal cell carcinoma

Aims Chromophobe renal cell carcinoma (ChRCC) is an uncommon malignant renal neoplasm with a generally indolent clinical behaviour. Previous studies revealed biallelic inactivation of the hepatocyte nuclear factor-1[beta] (HNF1[beta]) gene in several patients with ChRCC. The aims of this study were...

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Published in:Histopathology 2013-03, Vol.62 (4), p.589
Main Authors: Wang, Chung-Chieh, Mao, Tsui-Lien, Yang, Wan-Ching, Jeng, Yung-Ming
Format: Article
Language:English
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Summary:Aims Chromophobe renal cell carcinoma (ChRCC) is an uncommon malignant renal neoplasm with a generally indolent clinical behaviour. Previous studies revealed biallelic inactivation of the hepatocyte nuclear factor-1[beta] (HNF1[beta]) gene in several patients with ChRCC. The aims of this study were to determine HNF1[beta] expression in renal neoplasms and the potential of HNF1[beta] as a diagnostic marker for ChRCC. Methods and results We performed immunohistochemical staining of 79 samples taken from patients with primary renal neoplasm [19 renal oncocytomas, 18 ChRCCs, 24 clear cell renal cell carcinomas (CCRCCs), and 18 papillary renal cell carcinomas]. HNF1[beta] was underexpressed in 16 of 18 cases of ChRCC (88.9%). By contrast, HNF1[beta] expression was preserved in the majority of renal oncocytoma (94.7%, 18/19) and CCRCC (95.8%, 23/24) cases. The combined use of HNF1[beta] and cytokeratin 7 (CK7) further increased the diagnostic sensitivity and specificity; the profile of HNF1[beta] positivity and CK7 negativity was not visible in any ChRCC sample, but was common in both renal oncocytoma (94.7%, 18/19) and CCRCC (91.7%, 22/24) samples. Conclusions The results suggest that a lack of HNF1[beta] expression might play an important role in the pathogenesis of ChRCC, and may serve as a good diagnostic marker for this neoplasm. [PUBLICATION ABSTRACT]
ISSN:0309-0167
1365-2559
DOI:10.1111/his.12026