24 januari 2025: zie ook dit artikel: https://kanker-actueel.nl/ctdna-circulerend-tumor-dna-is-uitstekende-biomarker-voor-wel-of-geen-toekomstig-recidief-na-operatie-en-of-chemotherapie-bij-endeldarmkanker-rectumkanker-blijkt-uit-meta-analyse.html

24 januari 2025: Bron: Annals of Oncology, Volume 35, Issue 5, May 2024, Pages 476-477

Een multimodale ctDNA test die de resultaten uit het bloed samenvoegt met resultaten uit erfelijkheidsonderzoek en genetisch onderzoek (genomica, epigenetica en fragmentomics en proteomics (eiwitexprressie)blijkt bij mensen in Barcelona die positief scoorden bij een fecal immunochemical test (FIT) nauwkeurig het stadium van de aanwezige darmkankertumoren te registreren. 

Totaal 623 bloedmonsters verkregen via een ctDNA test werden geanalyseerd in de primaire analyse. Gevoeligheid en specificiteit van de gebruikte test om darmkanker vast te stellen was 93% en 90%, respectievelijk in de vergelijking met patiënten met reeds eerder vastgestelde darmkanker in een Spaanse studie.

De gevoeligheid om de stadia van de darmkankertumoren vast te stellen was 84% voor stadium I, 94% voor stadium II en 96% voor stadium III (70/73).

Een tweede doel van de studie was om gevorderde kwaadaardige poliepen te ontdekken en bleek bij 23 procent vast te stellen .

Dit zijn de kernpunten van de studie:

  • De effectiviteit van CRC-screeningprogramma's wordt beperkt door de lage naleving van screeningaanbevelingen door de bevolking.
  • Een nieuwe bloedmultimodale ctDNA-gebaseerde test werd getest bij FIT-positieve personen uit een screeningprogramma en CRC-patiënten.
  • CRC werd met hoge nauwkeurigheid gedetecteerd (93% gevoeligheid; 90% specificiteit). De gevoeligheid om precancereuze laesies te detecteren was 23%.
  • Een bloedtest met genomica, epigenomica, fragmentomica en proteomica kan de effectiviteit van CRC-screening vergroten. 

De onderzoekers stellen dan ook dat deze multimodale ctDNA test samengevoegd met resultaten uit erfelijkheidsonderzoek en genetisch onderzoek goed gebruikt zou kunnen worden bij het bevolkingsonderzoek darmkanker.

Het volledige studierapport is gratis in te zien of te downloaden. Klik daarvoor op de titel van het abstract:

Annals of Oncology

Volume 34, Issue 12, December 2023, Pages 1187-1193
Annals of Oncology
Original Article

High accuracy of a blood ctDNA-based multimodal test to detect colorectal cancer

https://doi.org/10.1016/j.annonc.2023.09.3113Get rights and content
Under a Creative Commons license
open access
Referred to by
Annals of Oncology, Volume 35, Issue 5, May 2024, Pages 476-477
H. Brenner, T. Niedermaier, M. Hoffmeister

Highlights

  • The effectiveness of CRC screening programs is limited by the low adherence of the population to screening recommendations.
  • A novel blood multimodal ctDNA-based assay was tested in FIT-positive individuals from a screening program and CRC patients.
  • CRC was detected with high accuracy (93% sensitivity; 90% specificity). Sensitivity to detect precancerous lesions was 23%.
  • A blood test including genomics, epigenomics, fragmentomics and proteomics may increase the effectiveness of CRC screening.

Background

Detection of circulating tumor DNA (ctDNA) is a minimally invasive and convenient blood-based screening strategy that may increase effectiveness of colorectal cancer (CRC) screening.

Patients and methods

A novel multimodal ctDNA-based blood assay that integrates genomics, epigenomics and fragmentomics, as well as proteomics in a refined version, was tested in blood samples from two cohorts: (i) consecutive fecal immunochemical test (FIT)-positive individuals from the CRC Barcelona stool-based screening program; (ii) patients diagnosed with CRC. Primary endpoint was the performance of the test to detect CRC at different tumor–node–metastasis (TNM) stages. Secondary endpoint was the ability of the test to detect advanced precancerous lesions (advanced adenoma or advanced serrated lesion).

Results

A total of 623 blood samples were analyzed in the primary analysis. Sensitivity and specificity of the assay to detect CRC was 93% and 90%, respectively. The sensitivity of CRC detection according to TNM stages was 84% for stage I, 94% for stage II and 96% for stage III (70/73) (P< 0.024). Sensitivity to detect advanced precancerous lesions was 23% with a refined version of the test (including protein and updating bioinformatic thresholding).

Conclusion

A blood-based multimodal ctDNA assay detected CRC with high accuracy. This minimally invasive, accessible and convenient assay may help to increase the effectiveness of CRC screening.

Disclosure

JV reports personal fees from MerckAmgenSanofiBristol Myers Squibb and Pierre Fabre outside the submitted work. BB reports grants from ThermoFisher, Roche DiagnosticsRoche Farma and AstraZeneca; and personal fees from AmgenAstraZeneca, Janssen, Novartis, Merck-Serono, Qiagen, ThermoFisher, Pfizer and Bristol Myers SquibbCM reports grants from Merck-Serono, Amgen and Roche; and personal fees from AmgenLilly, Merck-Serono, Sanofi and Biocartis outside the submitted work. All other authors have declared no conflicts of interest.

Funding

This study was supported by Project “PI21/00041”, funded by Instituto de Salud Carlos III (ISCIII) and co-funded by the European Union and by “CRIS EXCELLENCE19-30”, funded by CRIS Contra el Cáncer.

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References


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