TY  - JOUR
AU  - Bochtler, Tilmann
AU  - Wohlfromm, Timothy
AU  - Hielscher, Thomas
AU  - Stichel, Damian
AU  - Pouyiourou, Maria
AU  - Kraft, Bianca
AU  - Neumann, Olaf
AU  - Endris, Volker
AU  - von Deimling, Andreas
AU  - Stenzinger, Albrecht
AU  - Krämer, Alwin
TI  - Prognostic Impact of Copy Number Alterations and Tumor Mutational Burden in Carcinoma of Unknown Primary.
JO  - Genes, chromosomes & cancer
VL  - 61
IS  - 9
SN  - 1045-2257
CY  - New York, NY
PB  - Wiley-Liss
M1  - DKFZ-2022-00750
SP  - 551-560
PY  - 2022
N1  - #EA:A360#LA:A360# / 2022 Sep;61(9):551-560
AB  - Chromosomal aberrations are known to drive metastatic spread, but their profile is still elusive in carcinoma of unknown primary (CUP). Therefore, it was the aim of this study to characterize the chromosomal aberration pattern in CUP depending on histological and clinical features and to assess its prognostic impact together with chromothripsis, tumor mutational burden (TMB), microsatellite instability (MSI) and mutational profiles as potential prognostic biomarkers.Chromosomal aberrations and chromothripsis were detected by methylation-based copy number variation (CNV) analysis, whereas TMB and MSI were calculated based on large next generation sequencing (NGS) panels. Putative primaries were assigned by consensus between two independent oncologists.CNV losses varied depending on putative primaries and were more abundant in patients harboring TP53 mutations and/or deletions 17p. CNV loss was prognostically adverse in localized CUP treated with surgery and/or radiotherapy, but not in disseminated poor risk CUP treated with palliative chemotherapy. CNV loss also worsened the prognosis in squamous cell CUP. Chromothripsis was detected in 18/59 (30.5
KW  - Carcinoma of unknown primary (CUP) (Other)
KW  - chromosomal instability (Other)
KW  - chromothripsis (Other)
KW  - copy number variations (CNV) (Other)
KW  - mutational profile (Other)
KW  - prognosis (Other)
KW  - tumor mutational burden (TMB) (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:35430765
DO  - DOI:10.1002/gcc.23047
UR  - https://inrepo02.dkfz.de/record/179572
ER  -