# Association of immune relevant single nucleotide polymorphisms with ALK-positive anaplastic large cell lymphoma presentation and outcome: results of the immuno ALCL study

## TL;DR

This study explores how genetic variations in immune-related genes may influence the age of diagnosis and survival in ALK-positive anaplastic large cell lymphoma patients.

## Contribution

The study identifies specific SNPs in IL10 and TLR3 genes that correlate with clinical features and survival in ALK-positive ALCL patients.

## Key findings

- IL10 rs1800872, IL10 rs1800896, and TLR3 rs3775291 SNPs were significantly linked to age at diagnosis.
- TLR3 rs3775291 was associated with progression-free survival in a recessive model.
- Combining multiple genetic variations showed a trend toward post-therapeutic relapse.

## Abstract

Single nucleotide polymorphisms (SNPs) of cancer-immunity relevant genes may decide the extent of tumor immunosurveillance and have clinical significance. The Immuno ALCL trial was designed to investigate whether genetic variability in 13 cancer-immunity relevant genes correlated with clinical features and outcome of anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) patients.

One hundred eighty patients were enrolled and genotyped for 14 SNPs. Age at diagnosis, progression-free survival, histological subtype and anti-ALK antibody titer data were collected.

IL10 rs1800872, IL10 rs1800896 and TLR3 rs3775291 variants significantly correlated with age at diagnosis. TLR3 rs3775291 was associated with progression-free survival in a recessive model. Combination of multiple genetic variations showed a trend to associate with post-therapeutic relapse. None of the SNP analyzed associated with histological or clinical parameters.

Despite the low number of patients, our work uncovered potential associations between certain cancer-immunity relevant genes and clinical features of ALK-positive ALCL patients. Associations do not imply causations. However, our work highlighted a possible contribution of the IL10 and TLR3 pathways to ALK-positive ALCL pathogenesis and suggested that several genetic variants in concert may modulate the risk of post-therapeutic relapse.

clinicaltrial.gov NCT02902874. Registered 07 September 2016 https//clinicaltrials.gov/study/NCT02902874.

The online version contains supplementary material available at 10.1186/s12967-025-07410-5.