ArticleNPJ precision oncology2025
Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.
Article in NPJ precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The trial behind it
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Who cites it
2 citing papers in PubMed.
- Anal canal neoplasms in the modern era: integrating HPV biology, LAST terminology, and evolving molecular classification.Virchows Archiv : an international journal of pathology · 2026Review
- Deciphering the Molecular Landscape of Squamous Cell Carcinoma of the Anal Canal: From Biology to Precision Oncology.Cancers · 2026Review
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Authors and funding
36 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anal squamous cell carcinoma (aSCC) is a rare, predominantly HPV-driven cancer with limited treatment options. This study aimed to define its genomic landscape, identify actionable targets (AT), and highlight the clinical value of molecular profiling-especially liquid biopsy (LB)-based on Gustave Roussy's (GR) experience. In this retrospective analysis, 1844 patients from the U.S. and France underwent tissue biopsy (TB, n = 1733) and/or LB (n = 140), analyzed using the FoundationOne®CDx or FoundationOne® Liquid CDx assays both comprehensive genomic profiling assays for solid tumors covering ~324 genes. Twenty-nine patients had paired TB/LB, and 44 LB patients formed the clinically annotated GR subgroup. HPV was detected in 86.6% of cases, predominantly HPV-16 (75.6%). High tumor mutational burden (≥10 mut/Mb) was found in 17.1% of patients; microsatellite instability was rare (1.7%). Frequent mutations included PIK3CA (34.5%), KMT2D (18.0%), PTEN (13.1%), FBXW7 (12.9%), and TP53 (12.0%). ATs were identified in BRCA1/2, FGFR2/3, EGFR, KRAS, BRAF, and NRAS. Mutation patterns varied by HPV subtype. LB showed high concordance with TB, including HPV detection. At GR, LB informed treatment decisions in 18.2% of cases. Four clinical examples illustrated LB-guided therapies. This largest-to-date aSCC cohort reinforces molecular profiling-especially LB-as a key tool for guiding personalized therapy.
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Registered trials
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