2021
DOI: 10.1002/cncr.33865
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Contrasting genomic profiles from metastatic sites, primary tumors, and liquid biopsies of advanced prostate cancer

Abstract: BACKGROUND:This study assessed the contrasting genomic profiles from the primary tumors (PTs), metastatic (MET) sites, and circulating tumor DNA (ctDNA) of patients with prostate cancer (PC). METHODS: A total of 1294 PC tissue specimens and 2462 ctDNA specimens underwent hybrid capture-based comprehensive genomic profiling (CGP). Specimens included tissue from PTs; MET biopsies from bone, liver (LIV), lung (LU), brain (BN), lymph node, and soft tissue sites; and ctDNA. RESULTS: Differences in alteration freque… Show more

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Cited by 7 publications
(7 citation statements)
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“…HRR gene alterations are truncal, as they originate in primary tumor specimens, and frequency does not increase with treatment or upon disease progression. [20][21][22] Our analysis supports that the vast majority of HRR gene alterations were found in primary archived tumor specimens, supporting that these alterations are truncal and archived specimens can be used for CGP.…”
Section: Discussionsupporting
confidence: 73%
See 1 more Smart Citation
“…HRR gene alterations are truncal, as they originate in primary tumor specimens, and frequency does not increase with treatment or upon disease progression. [20][21][22] Our analysis supports that the vast majority of HRR gene alterations were found in primary archived tumor specimens, supporting that these alterations are truncal and archived specimens can be used for CGP.…”
Section: Discussionsupporting
confidence: 73%
“…CGP results from tissue and liquid specimens in our analysis (see Figure, Table 3, and Supplemental Figures 1 and 2, https://www.urologypracticejournal.com) found gene alteration and biomarker frequencies that are consistent with published literature. 18,20-23,28 Of note, SPOP was only found in tissue specimens. SPOP mutations are more frequent in primary tumors compared to metastatic sites and are mutually exclusive from TRMPRSS2-ERG rearrangements.…”
Section: Discussionmentioning
confidence: 99%
“…Publications with the highest level of evidence were selected for review. This yielded 60 articles for which full text evaluation was performed and included in the final review 12–71 . A flow diagram of the article evaluation process is shown in Figure 1.…”
Section: Methodsmentioning
confidence: 99%
“…17 The reasons for the observed high, but imperfect concordance, also seen in other cancer types, can be varied. They likely include time between the tissue and liquid biopsies (reflecting tumor evolution, especially in late, heavily treated disease 12,25,73 ), intrapatient heterogeneity more likely to be fully captured in ctDNA than in tissue, 14,25 and a deeper analysis of the specific region of the lesion biopsied in tissue because of higher tumor fraction versus broader, lower tumor fraction analysis in ctDNA.…”
Section: Evidence Synthesis Circulating Tumor Dnamentioning
confidence: 99%
“…reported heterogeneity in the genomic alterations (GAs) detected in the primary tumors, metastatic sites, and ctDNA. [ 6 ]…”
Section: Disparate Genomic Profiles Of Prostate Cancer Tissue and Liquid Biopsiesmentioning
confidence: 99%