Prevalence and clinical significance of VHL mutations and 3p25 deletions in renal tumor subtypes

Standard

Prevalence and clinical significance of VHL mutations and 3p25 deletions in renal tumor subtypes. / Büscheck, Franziska; Fraune, Christoph; Simon, Ronald; Kluth, Martina; Hube-Magg, Claudia; Möller-Koop, Christina; Sarper, Imren; Ketterer, Kathrin; Henke, Tjark; Eichelberg, Christian; Dahlem, Roland; Wilczak, Waldemar; Sauter, Guido; Fisch, Margit; Eichenauer, Till; Rink, Michael.

in: ONCOTARGET, Jahrgang 11, Nr. 3, 21.01.2020, S. 237-249.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungSCORING: ZeitschriftenaufsatzForschungBegutachtung

Harvard

Büscheck, F, Fraune, C, Simon, R, Kluth, M, Hube-Magg, C, Möller-Koop, C, Sarper, I, Ketterer, K, Henke, T, Eichelberg, C, Dahlem, R, Wilczak, W, Sauter, G, Fisch, M, Eichenauer, T & Rink, M 2020, 'Prevalence and clinical significance of VHL mutations and 3p25 deletions in renal tumor subtypes', ONCOTARGET, Jg. 11, Nr. 3, S. 237-249. https://doi.org/10.18632/oncotarget.27428

APA

Vancouver

Bibtex

@article{cee012b6bbf741639ae467afe0eaf507,
title = "Prevalence and clinical significance of VHL mutations and 3p25 deletions in renal tumor subtypes",
abstract = "PURPOSE: To evaluate prevalence and clinical impact of VHL mutations and deletions (3p), a cohort of consecutive kidney tumors was analyzed by DNA sequencing and fluorescence in-situ hybridization (FISH).PATIENTS AND METHODS: The study includes 1,805 patients with renal tumors who were surgically treated at the Department of Urology at the University Medical Center Hamburg-Eppendorf between 1994 and 2015. The cohort included 1,176 clear cell, 270 papillary, 101 chromophobe, and 28 clear cell (tubulo) papillary cancers, as well as 149 oncocytomas and 81 less common subtypes.RESULTS: Among 431 successfully analyzed tumors, VHL mutations were found in 59.3% of clear cell, 5.2% of papillary, 3.1% of chromophobe carcinomas and in 7.3% of oncocytomas as well as in the rare kidney tumor types (25%-60%). FISH analysis was successful in 1,403 cases. 3p25 deletion was found in 57.2% of clear cell, 17.6% of papillary, 17.7% of chromophobe carcinomas and in 11.9% of oncocytomas as well as in the rare kidney tumor types (16.7%-50%). No statistically significant associations between VHL mutation/deletion and tumor grade, stage, and clinical outcome was found. Only in the subgroup of papillary cancers, 3p deletion was significantly associated with lymph node and distant metastasis as well as with poor patient outcome (p < 0.05 each).CONCLUSIONS: The presence of a VHL mutation in virtually all renal tumor subtypes suggests that VHL analysis cannot be used to distinguish between renal tumor subtypes. Consequently, anti-VHL treatment strategies should not be limited to patients with clear cell cancer.",
author = "Franziska B{\"u}scheck and Christoph Fraune and Ronald Simon and Martina Kluth and Claudia Hube-Magg and Christina M{\"o}ller-Koop and Imren Sarper and Kathrin Ketterer and Tjark Henke and Christian Eichelberg and Roland Dahlem and Waldemar Wilczak and Guido Sauter and Margit Fisch and Till Eichenauer and Michael Rink",
year = "2020",
month = jan,
day = "21",
doi = "10.18632/oncotarget.27428",
language = "English",
volume = "11",
pages = "237--249",
journal = "ONCOTARGET",
issn = "1949-2553",
publisher = "IMPACT JOURNALS LLC",
number = "3",

}

RIS

TY - JOUR

T1 - Prevalence and clinical significance of VHL mutations and 3p25 deletions in renal tumor subtypes

AU - Büscheck, Franziska

AU - Fraune, Christoph

AU - Simon, Ronald

AU - Kluth, Martina

AU - Hube-Magg, Claudia

AU - Möller-Koop, Christina

AU - Sarper, Imren

AU - Ketterer, Kathrin

AU - Henke, Tjark

AU - Eichelberg, Christian

AU - Dahlem, Roland

AU - Wilczak, Waldemar

AU - Sauter, Guido

AU - Fisch, Margit

AU - Eichenauer, Till

AU - Rink, Michael

PY - 2020/1/21

Y1 - 2020/1/21

N2 - PURPOSE: To evaluate prevalence and clinical impact of VHL mutations and deletions (3p), a cohort of consecutive kidney tumors was analyzed by DNA sequencing and fluorescence in-situ hybridization (FISH).PATIENTS AND METHODS: The study includes 1,805 patients with renal tumors who were surgically treated at the Department of Urology at the University Medical Center Hamburg-Eppendorf between 1994 and 2015. The cohort included 1,176 clear cell, 270 papillary, 101 chromophobe, and 28 clear cell (tubulo) papillary cancers, as well as 149 oncocytomas and 81 less common subtypes.RESULTS: Among 431 successfully analyzed tumors, VHL mutations were found in 59.3% of clear cell, 5.2% of papillary, 3.1% of chromophobe carcinomas and in 7.3% of oncocytomas as well as in the rare kidney tumor types (25%-60%). FISH analysis was successful in 1,403 cases. 3p25 deletion was found in 57.2% of clear cell, 17.6% of papillary, 17.7% of chromophobe carcinomas and in 11.9% of oncocytomas as well as in the rare kidney tumor types (16.7%-50%). No statistically significant associations between VHL mutation/deletion and tumor grade, stage, and clinical outcome was found. Only in the subgroup of papillary cancers, 3p deletion was significantly associated with lymph node and distant metastasis as well as with poor patient outcome (p < 0.05 each).CONCLUSIONS: The presence of a VHL mutation in virtually all renal tumor subtypes suggests that VHL analysis cannot be used to distinguish between renal tumor subtypes. Consequently, anti-VHL treatment strategies should not be limited to patients with clear cell cancer.

AB - PURPOSE: To evaluate prevalence and clinical impact of VHL mutations and deletions (3p), a cohort of consecutive kidney tumors was analyzed by DNA sequencing and fluorescence in-situ hybridization (FISH).PATIENTS AND METHODS: The study includes 1,805 patients with renal tumors who were surgically treated at the Department of Urology at the University Medical Center Hamburg-Eppendorf between 1994 and 2015. The cohort included 1,176 clear cell, 270 papillary, 101 chromophobe, and 28 clear cell (tubulo) papillary cancers, as well as 149 oncocytomas and 81 less common subtypes.RESULTS: Among 431 successfully analyzed tumors, VHL mutations were found in 59.3% of clear cell, 5.2% of papillary, 3.1% of chromophobe carcinomas and in 7.3% of oncocytomas as well as in the rare kidney tumor types (25%-60%). FISH analysis was successful in 1,403 cases. 3p25 deletion was found in 57.2% of clear cell, 17.6% of papillary, 17.7% of chromophobe carcinomas and in 11.9% of oncocytomas as well as in the rare kidney tumor types (16.7%-50%). No statistically significant associations between VHL mutation/deletion and tumor grade, stage, and clinical outcome was found. Only in the subgroup of papillary cancers, 3p deletion was significantly associated with lymph node and distant metastasis as well as with poor patient outcome (p < 0.05 each).CONCLUSIONS: The presence of a VHL mutation in virtually all renal tumor subtypes suggests that VHL analysis cannot be used to distinguish between renal tumor subtypes. Consequently, anti-VHL treatment strategies should not be limited to patients with clear cell cancer.

U2 - 10.18632/oncotarget.27428

DO - 10.18632/oncotarget.27428

M3 - SCORING: Journal article

C2 - 32076485

VL - 11

SP - 237

EP - 249

JO - ONCOTARGET

JF - ONCOTARGET

SN - 1949-2553

IS - 3

ER -