Real-world deployment of a fine-tuned pathology foundation model for lung cancer biomarker detection
Artikel i vetenskaplig tidskrift, 2025

Artificial intelligence models using digital histopathology slides stained with hematoxylin and eosin offer promising, tissue-preserving diagnostic tools for patients with cancer. Despite their advantages, their clinical utility in real-world settings remains unproven. Assessing EGFR mutations in lung adenocarcinoma demands rapid, accurate and cost-effective tests that preserve tissue for genomic sequencing. PCR-based assays provide rapid results but with reduced accuracy compared with next-generation sequencing and require additional tissue. Computational biomarkers leveraging modern foundation models can address these limitations. Here we assembled a large international clinical dataset of digital lung adenocarcinoma slides (N = 8,461) to develop a computational EGFR biomarker. Our model fine-tunes an open-source foundation model, improving task-specific performance with out-of-center generalization and clinical-grade accuracy on primary and metastatic specimens (mean area under the curve: internal 0.847, external 0.870). To evaluate real-world clinical translation, we conducted a prospective silent trial of the biomarker on primary samples, achieving an area under the curve of 0.890. The artificial-intelligence-assisted workflow reduced the number of rapid molecular tests needed by up to 43% while maintaining the current clinical standard performance. Our retrospective and prospective analyses demonstrate the real-world clinical utility of a computational pathology biomarker.

Författare

Gabriele Campanella

Icahn School of Medicine at Mount Sinai

Neeraj Kumar

Memorial Sloan-Kettering Cancer Center

Swaraj Nanda

Memorial Sloan-Kettering Cancer Center

Siddharth Singi

Memorial Sloan-Kettering Cancer Center

Eugene Fluder

Icahn School of Medicine at Mount Sinai

Ricky Kwan

Icahn School of Medicine at Mount Sinai

Silke Muehlstedt

Icahn School of Medicine at Mount Sinai

Nicole Pfarr

Technische Universität München

Peter J. Schüffler

Technische Universität München

Ida Häggström

Chalmers, Elektroteknik, Signalbehandling och medicinsk teknik

Göteborgs universitet

Noora Neittaanmäki

Göteborgs universitet

Sahlgrenska universitetssjukhuset

Levent M. Akyürek

Sahlgrenska universitetssjukhuset

Göteborgs universitet

Alina Basnet

SUNY Upstate Medical University

Tamara Jamaspishvili

SUNY Upstate Medical University

Michel R. Nasr

SUNY Upstate Medical University

Matthew M. Croken

Icahn School of Medicine at Mount Sinai

Fred R. Hirsch

Icahn School of Medicine at Mount Sinai

Arielle Elkrief

Université de Montréal

Helena Yu

Weill Cornell Medical College

Memorial Sloan-Kettering Cancer Center

Orly Ardon

Memorial Sloan-Kettering Cancer Center

Gregory M. Goldgof

Memorial Sloan-Kettering Cancer Center

Meera Hameed

Memorial Sloan-Kettering Cancer Center

Jane Houldsworth

Icahn School of Medicine at Mount Sinai

Maria Arcila

Memorial Sloan-Kettering Cancer Center

Thomas J. Fuchs

Icahn School of Medicine at Mount Sinai

Chad Vanderbilt

Memorial Sloan-Kettering Cancer Center

Nature Medicine

1078-8956 (ISSN) 1546170x (eISSN)

Vol. In Press

Ämneskategorier (SSIF 2025)

Cancer och onkologi

DOI

10.1038/s41591-025-03780-x

PubMed

40634781

Mer information

Senast uppdaterat

2025-07-23