Prevalence and clinical significance of VHL mutations and 3p25 deletions in renal tumor subtypes
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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/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -