Prognostic Value of Low-Pass Whole Genome Sequencing of Circulating Tumor DNA in Metastatic Castration-Resistant Prostate Cancer.

BACKGROUND: Multiple treatments are available for metastatic castration-resistant prostate cancer (mCRPC), including androgen receptor signaling inhibitors (ARSI) enzalutamide and abiraterone, but therapy resistance remains a major clinical obstacle. We examined the clinical utility of low-pass whol...

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Published in:Clinical Chemistry Vol. 69; no. 4; pp. 386 - 399
Main Authors: Nørgaard, Maibritt, Bjerre, Marianne T., Fredsøe, Jacob, Vang, Søren, Jensen, Jørgen B., De Laere, Bram, Grönberg, Henrik, Borre, Michael, Lindberg, Johan, Sørensen, Karina D.
Format: Journal Article
Published: Oxford University Press / USA Apr2023
Online Access:View this record in EBSCOhost
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      dt: Apr2023
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      pub: Oxford University Press / USA
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        10.1093/clinchem/hvac224
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        atl: Prognostic Value of Low-Pass Whole Genome Sequencing of Circulating Tumor DNA in Metastatic Castration-Resistant Prostate Cancer.
      aug:
        au:
          Nørgaard, Maibritt
          Bjerre, Marianne T.
          Fredsøe, Jacob
          Vang, Søren
          Jensen, Jørgen B.
          De Laere, Bram
          Grönberg, Henrik
          Borre, Michael
          Lindberg, Johan
          Sørensen, Karina D.
        affil: Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
      sug:
      ab: BACKGROUND: Multiple treatments are available for metastatic castration-resistant prostate cancer (mCRPC), including androgen receptor signaling inhibitors (ARSI) enzalutamide and abiraterone, but therapy resistance remains a major clinical obstacle. We examined the clinical utility of low-pass whole-genome sequencing (LPWGS) of circulating tumor DNA (ctDNA) for prognostication in mCRPC. METHODS: A total of 200 plasma samples from 143 mCRPC patients collected at the start of first-line ARSI treatment (baseline) and at treatment termination (n=57, matched) were analyzed by LPWGS (median: 0.50X) to access ctDNA% and copy number alteration (CNA) patterns. The best confirmed prostate specific antigen (PSA) response (≥50% decline [PSA50]), PSA progression-free survival (PFS), and overall survival (OS) were used as endpoints. For external validation, we used plasma LPWGS data from an independent cohort of 70 mCRPC patients receiving first-line ARSI. RESULTS: Baseline ctDNA% ranged from ≤3.0% to 73% (median: 6.6%) and CNA burden from 0% to 82% (median: 13.1%) in the discovery cohort. High ctDNA% and high CNA burden at baseline was associated with poor PSA50 response (P=0.0123/0.0081), poor PFS (P<0.0001), and poor OS (P<0.0001). ctDNA% and CNA burden was higher at PSA progression than at baseline in 32.7% and 42.3% of the patients. High ctDNA% and high CNA burden at baseline was also associated with poor PFS and OS (P ≤0.0272) in the validation cohort. CONCLUSIONS: LPWGS of ctDNA provides clinically relevant information about the tumor genome in mCRPC patients. Using LPWGS data, we show that high ctDNA% and CNA burden at baseline is associated with short PFS and OS in 2 independent cohorts.
      pubtype: Academic Journal
      doctype: Journal Article
      ougenre: Article
    language: English
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