Copy number variations in primary tumor, serum and lymph node metastasis of bladder cancer patients treated with radical cystectomy
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Copy number variations in primary tumor, serum and lymph node metastasis of bladder cancer patients treated with radical cystectomy. / Soave, Armin; Kluwe, Lan; Yu, Hang; Rink, Michael; Gild, Philipp; Vetterlein, Malte W; Marks, Philipp; Sauter, Guido; Fisch, Margit; Meyer, Christian P; Ludwig, Tim; Dahlem, Roland; Minner, Sarah; Pantel, Klaus; Steinbach, Bettina; Schwarzenbach, Heidi.
In: SCI REP-UK, Vol. 10, No. 1, 09.12.2020, p. 21562.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Copy number variations in primary tumor, serum and lymph node metastasis of bladder cancer patients treated with radical cystectomy
AU - Soave, Armin
AU - Kluwe, Lan
AU - Yu, Hang
AU - Rink, Michael
AU - Gild, Philipp
AU - Vetterlein, Malte W
AU - Marks, Philipp
AU - Sauter, Guido
AU - Fisch, Margit
AU - Meyer, Christian P
AU - Ludwig, Tim
AU - Dahlem, Roland
AU - Minner, Sarah
AU - Pantel, Klaus
AU - Steinbach, Bettina
AU - Schwarzenbach, Heidi
PY - 2020/12/9
Y1 - 2020/12/9
N2 - The aim of the present study was to analyze copy number variations (CNV) of multiple oncogenes and tumor suppressor genes in genomic DNA from primary tumor tissue, lymph node metastasis and cell-free DNA (cfDNA) from serum of 72 urothelial carcinoma of bladder (UCB) patients treated with radical cystectomy (RC), using multiplex ligation-dependent probe amplification (MLPA). We hypothesized that primary tumor and lymph node metastasis show similar CNV profiles, and CNV are more present in lymph node metastasis compared to primary tumor tissue. Samples from 43 (59.7%) patients could be analyzed. In total, 35 (83%), 26 (68%) and 8 (42%) patients had CNV in primary tumor, serum and lymph node metastasis, respectively. MYC, CCND1, ERBB2 and CCNE1 displayed the most frequent amplifications. In particular, CNV in ERBB2 was associated with aggressive tumor characteristics. CNV in both ERBB2 and TOP2A were risk factors for disease recurrence. The current findings show that CNV are present in various oncogenes and tumor suppressor genes in genomic DNA from primary tumor, lymph node metastasis and cfDNA from serum. CNV were more present in genomic DNA from primary tumor tissue compared to cfDNA from serum and genomic DNA from lymph node metastasis. Patients with CNV in ERBB2 and TOP2A are at increased risk for disease recurrence following RC. Further studies are necessary to validate, whether these genes may represent promising candidates for targeted-therapy.
AB - The aim of the present study was to analyze copy number variations (CNV) of multiple oncogenes and tumor suppressor genes in genomic DNA from primary tumor tissue, lymph node metastasis and cell-free DNA (cfDNA) from serum of 72 urothelial carcinoma of bladder (UCB) patients treated with radical cystectomy (RC), using multiplex ligation-dependent probe amplification (MLPA). We hypothesized that primary tumor and lymph node metastasis show similar CNV profiles, and CNV are more present in lymph node metastasis compared to primary tumor tissue. Samples from 43 (59.7%) patients could be analyzed. In total, 35 (83%), 26 (68%) and 8 (42%) patients had CNV in primary tumor, serum and lymph node metastasis, respectively. MYC, CCND1, ERBB2 and CCNE1 displayed the most frequent amplifications. In particular, CNV in ERBB2 was associated with aggressive tumor characteristics. CNV in both ERBB2 and TOP2A were risk factors for disease recurrence. The current findings show that CNV are present in various oncogenes and tumor suppressor genes in genomic DNA from primary tumor, lymph node metastasis and cfDNA from serum. CNV were more present in genomic DNA from primary tumor tissue compared to cfDNA from serum and genomic DNA from lymph node metastasis. Patients with CNV in ERBB2 and TOP2A are at increased risk for disease recurrence following RC. Further studies are necessary to validate, whether these genes may represent promising candidates for targeted-therapy.
U2 - 10.1038/s41598-020-75869-x
DO - 10.1038/s41598-020-75869-x
M3 - SCORING: Journal article
C2 - 33298978
VL - 10
SP - 21562
JO - SCI REP-UK
JF - SCI REP-UK
SN - 2045-2322
IS - 1
ER -