MHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution.

Puttick C., Jones TP., Leung MM., Galvez-Cancino F., Liu J., Varas-Godoy M., Rowan A., Pich O., Martinez-Ruiz C., Bentham R., Dijkstra KK., Black JRM., Rosenthal R., Kanu N., Litchfield K., Salgado R., Moore DA., Van Loo P., Jamal-Hanjani M., Quezada SA., TRACERx Consortium ., Swanton C., McGranahan N.

Disruption of the class I human leukocyte antigen (HLA) molecules has important implications for immune evasion and tumor evolution. We developed major histocompatibility complex loss of heterozygosity (LOH), allele-specific mutation and measurement of expression and repression (MHC Hammer). We identified extensive variability in HLA allelic expression and pervasive HLA alternative splicing in normal lung and breast tissue. In lung TRACERx and lung and breast TCGA cohorts, 61% of lung adenocarcinoma (LUAD), 76% of lung squamous cell carcinoma (LUSC) and 35% of estrogen receptor-positive (ER+) cancers harbored class I HLA transcriptional repression, while HLA tumor-enriched alternative splicing occurred in 31%, 11% and 15% of LUAD, LUSC and ER+ cancers. Consistent with the importance of HLA dysfunction in tumor evolution, in LUADs, HLA LOH was associated with metastasis and LUAD primary tumor regions seeding a metastasis had a lower effective neoantigen burden than non-seeding regions. These data highlight the extent and importance of HLA transcriptomic disruption, including repression and alternative splicing in cancer evolution.

DOI

10.1038/s41588-024-01883-8

Type

Journal article

Publication Date

2024-10-01T00:00:00+00:00

Volume

56

Pages

2121 - 2131

Total pages

10

Addresses

Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.

Keywords

TRACERx Consortium, Humans, Neoplasms, Carcinoma, Squamous Cell, Breast Neoplasms, Lung Neoplasms, Histocompatibility Antigens Class I, HLA Antigens, Evolution, Molecular, Major Histocompatibility Complex, Gene Expression Regulation, Neoplastic, Alternative Splicing, Mutation, Loss of Heterozygosity, Alleles, Female, Adenocarcinoma of Lung

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