NF1 mutations as biomarker of response to immune checkpoint blockades for lung adenocarcinoma patients

Jean-Stéphane Giraud; Anne Jouinot; Eric Pasmant; Camille Tlemsani

doi:10.1038/s41698-024-00524-x

NF1 mutations as biomarker of response to immune checkpoint blockades for lung adenocarcinoma patients

NPJ Precis Oncol. 2024 Feb 10;8(1):32. doi: 10.1038/s41698-024-00524-x.

Authors

Jean-Stéphane Giraud¹, Anne Jouinot¹, Eric Pasmant^{1

2}, Camille Tlemsani^{3

4}

Affiliations

¹ Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
² Genetic Department, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.
³ Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France. [email protected].
⁴ Oncology Department, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France. [email protected].

Abstract

Little is known about immune checkpoint inhibitors (ICI) response of NF1-mutated lung adenocarcinomas. 341/4,181 (8.2%) TCGA lung adenocarcinomas samples have a somatic NF1 mutation. NF1-mutated tumors have higher TMB (p < 0.0001), higher expression of immune genes ("hot phenotype") and higher CD8 + T cell (p = 0.03) and macrophage (p = 0.02) infiltrations compared to NF1 wild-type tumors. NF1 mutation status appears as a candidate predictive biomarker for ICI response in lung adenocarcinoma patients.