Home > Publications database > Prognostic Impact of Copy Number Alterations and Tumor Mutational Burden in Carcinoma of Unknown Primary. > print

001     179572
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024 7 _ |a 10.1002/gcc.23047
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100 1 _ |a Bochtler, Tilmann
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245 _ _ |a Prognostic Impact of Copy Number Alterations and Tumor Mutational Burden in Carcinoma of Unknown Primary.
260 _ _ |a New York, NY
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500 _ _ |a #EA:A360#LA:A360# / 2022 Sep;61(9):551-560
520 _ _ |a 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%) patients without prognostic effect. TMB was highest in cases with microsatellite instability, squamous cell histology and with lung, anal or cervical putative primaries.Overall, CNV, chromothripsis, TMB and MSI profiles in CUP are reminescent of biological characteristics known from other cancer entities without a unifying CUP-specific signature. Markedly, high-level CNV loss is an adverse predictive biomarker in localized but not disseminated chemotherapy treated CUP. This implies that chromosomal losses drive CUP progression, but also increase susceptibility to chemotherapy, with both effects apparently leveling out in disseminated CUP.
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650 _ 7 |a Carcinoma of unknown primary (CUP)
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650 _ 7 |a chromosomal instability
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650 _ 7 |a chromothripsis
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650 _ 7 |a copy number variations (CNV)
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650 _ 7 |a mutational profile
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650 _ 7 |a prognosis
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650 _ 7 |a tumor mutational burden (TMB)
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700 1 _ |a Wohlfromm, Timothy
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700 1 _ |a Hielscher, Thomas
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700 1 _ |a Stichel, Damian
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700 1 _ |a Pouyiourou, Maria
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700 1 _ |a Kraft, Bianca
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700 1 _ |a Neumann, Olaf
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700 1 _ |a Endris, Volker
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700 1 _ |a von Deimling, Andreas
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700 1 _ |a Stenzinger, Albrecht
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700 1 _ |a Krämer, Alwin
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773 _ _ |a 10.1002/gcc.23047
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