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Tumor-informed circulating tumor DNA stratifies recurrence risk and survival in anal squamous cell carcinoma

  • Paul B. Romesser
  • , Aron Bercz
  • , Janet Alvarez
  • , Caroline E. Kostrzewa
  • , Angela Adames
  • , Elisa K. Liu
  • , Yu Jui Ho
  • , Natasha Mohan
  • , Marsha Reyngold
  • , Rona Yaeger
  • , Diana A. Roth O’Brien
  • , John J. Cuaron
  • , Melissa Zinovoy
  • , Christine Olinger
  • , Revathi Ravella
  • , Jeanine Lisanti
  • , Wini Zambare
  • , Vasily N. Aushev
  • , Shruti Sharma
  • , Meenakshi Malhotra
  • Samuel Rivero-Hinojosa, Nathan Schauer, Adham Jurdi, Minetta C. Liu, Abraham Wu, Vonetta Williams, Louise Connell, Emmanouil Pappou, Devika Rao, Neil H. Segal, Philip B. Paty, Martin R. Weiser, Andrea Cercek, Jorge Marcet, Julio Garcia-Aguilar, Chris H. Crane, Mithat Gonen, J. Joshua Smith, Richard Tuli

Research output: Contribution to journalArticlepeer-review

Abstract

Patients with anal squamous cell carcinoma (ASCC) who fail chemoradiation (CRT) have poor outcomes, underscoring the need for biomarkers to guide risk stratification. In a real-world two-center cohort of 84 adults with non-metastatic ASCC treated with curative-intent CRT, we prospectively evaluate a tumor-informed circulating tumor DNA (ctDNA) assay (SignateraTM, Natera). Here we show that across 647 plasma specimens, ctDNA is positive at pre-treatment in 79% (61/77), including 89% (24/27) with stage III disease. End-of-treatment ctDNA positivity identifies patients with inferior one-year outcomes: 63% overall survival, 44% progression-free survival, and 39% locoregional failure. Conversely, patients who were ctDNA-negative at baseline or who cleared ctDNA during-treatment have 100% locoregional failure-free survival. During surveillance, ctDNA re-emergence precedes clinical or radiographic relapse in every case. These findings support the consideration of ctDNA as a dynamic, treatment-responsive biomarker warranting prospective validation for risk-adapted surveillance and adjuvant therapy in ASCC.

Original languageEnglish (US)
Article number3241
JournalNature communications
Volume17
Issue number1
DOIs
StatePublished - Dec 2026

ASJC Scopus subject areas

  • General Chemistry
  • General Biochemistry, Genetics and Molecular Biology
  • General
  • General Physics and Astronomy

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