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. 2021 Feb;9(3):209.
doi: 10.21037/atm-20-3061.

Y-chromosome loss is frequent in male renal tumors

Franziska Büscheck  1 , Christoph Fraune  1 , Seyedehmina Garmestani  1 , Ronald Simon  1 , Martina Kluth  1 , Claudia Hube-Magg  1 , Kathrin Ketterer  1 , Christian Eichelberg  2 , Doris Höflmayer  1 , Frank Jacobsen  1 , Corinna Wittmer  1 , Waldemar Wilczak  1 , Guido Sauter  1 , Margit Fisch  3 , Till Eichenauer  3 , Michael Rink  3
Affiliations

Y-chromosome loss is frequent in male renal tumors

Franziska Büscheck et al. Ann Transl Med. 2021 Feb.

Abstract

Background: Loss of the Y-chromosome is a common event in different tumor types but its prevalence and clinical relevance in renal cell tumors is still not understood.

Methods: It was the aim of this study to estimate the frequency and clinical relevance of Y-loss in kidney neoplasms. A cohort of 1,252 male renal tumors was analyzed in a tissue microarray format by fluorescence in-situ hybridization (FISH).

Results: Y-loss was found in 47% of tumors. The frequency of this alteration varied markedly between kidney tumor subtypes. Y-loss was most prevalent in papillary renal cell carcinoma (RCC) (77%) followed by chromophobe RCC (60%), oncocytoma (51%), clear cell RCC (39%) and clear cell (tubulo)papillary RCC (19%). Y-loss was linked to higher patient age and smaller tumor size at diagnosis. Mean age (95% CI) was 65 (64-66) years in patients with Y-loss in their tumor compared to 60 (58-61) years in patients without Y-loss (P<0.0001). Significant correlations between Y-loss and tumor phenotype were found only for papillary carcinomas (P=0.002), especially for type 1 (P=0.03).

Conclusions: Y-loss is present in different histologic subtypes of renal neoplasm. The highest frequency is in papillary RCC, where it may represent a potentially relevant prognostic biomarker suggesting favorable disease outcome.

Keywords: Y-loss; fluorescence in-situ hybridization (FISH); prognosis; renal cell neoplasm.

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Conflict of interest statement

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/atm-20-3061). The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Examples of fluorescence in-situ hybridization (FISH) findings using the commercial Y/X FISH probe. FISH-probe color for Y-chromosome (Yp11.1-q11.1) is spectrum orange and for X-chromosome (Xp11.1-q11.1) spectrum green. (A) Loss of chromosome Y as indicated by the lack of orange chromosome Y signal in the presence of one chromosome X signal. (B) Normal chromosome Y copy number as indicated by one orange chromosome Y signal and one green chromosome X signal. (C) Female control sample with two green chromosome X signals and no orange chromosome Y signal.
Figure 2
Figure 2
Y-chromosome loss and recurrence-free survival in clear cell (ccRCC, N=447), chromophobe (chRCC, N=36) and papillary renal cell cancer (pRCC, N=106).
See this image and copyright information in PMC

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