Büscheck Franziska, Fraune Christoph, Garmestani Seyedehmina, Simon Ronald, Kluth Martina, Hube-Magg Claudia, Ketterer Kathrin, Eichelberg Christian, Höflmayer Doris, Jacobsen Frank, Wittmer Corinna, Wilczak Waldemar, Sauter Guido, Fisch Margit, Eichenauer Till, Rink Michael
Institute of Pathology, University Medical Center Hamburg-Eppendorf, Martinistr. 52 D-20246 Hamburg, Germany.
Clinic for Urology, Krankenhaus St. Josef, Landshuter Straße 65 D-93053 Regensburg, Germany.
Ann Transl Med. 2021 Feb;9(3):209. doi: 10.21037/atm-20-3061.
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.
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).
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).
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.
Y染色体缺失在不同肿瘤类型中是常见事件,但其在肾细胞肿瘤中的发生率及临床相关性仍不清楚。
本研究旨在评估肾肿瘤中Y染色体缺失的频率及临床相关性。采用荧光原位杂交(FISH)技术,以组织芯片形式分析了1252例男性肾肿瘤队列。
47%的肿瘤中发现Y染色体缺失。这种改变的频率在肾肿瘤亚型之间有显著差异。Y染色体缺失在乳头状肾细胞癌(RCC)中最为常见(77%),其次是嫌色性RCC(60%)、嗜酸细胞瘤(51%)、透明细胞RCC(39%)和透明细胞(小管)乳头状RCC(19%)。Y染色体缺失与患者年龄较大及诊断时肿瘤较小有关。肿瘤中存在Y染色体缺失的患者的平均年龄(95%CI)为65(64-66)岁,而无Y染色体缺失的患者为60(58-61)岁(P<0.0001)。仅在乳头状癌中发现Y染色体缺失与肿瘤表型有显著相关性(P=0.002),尤其是1型乳头状癌(P=0.03)。
Y染色体缺失存在于肾肿瘤的不同组织学亚型中。在乳头状RCC中频率最高,可能代表一种潜在相关的预后生物标志物,提示疾病预后良好。