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Poster session 01

123P - Correlation between MSI, TMB and BLM gene mutation in solid tumors

Date

10 Sep 2022

Session

Poster session 01

Topics

Tumour Site

Colon and Rectal Cancer

Presenters

yu jinhai

Citation

Annals of Oncology (2022) 33 (suppl_7): S27-S54. 10.1016/annonc/annonc1037

Authors

Y. jinhai1, H. Hu2, Z. bian2, J. Ma2, S. Chen3, G. Lu2, W. Deng3, R. Ding4, F. Bu4

Author affiliations

  • 1 Gastro-colorectal Surgery, The First Hospital of Jilin University, Changchun City - Jilin Province/CN
  • 2 The Medical Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing/CN
  • 3 Bioinformatics Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing/CN
  • 4 Operations Department, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing/CN

Resources

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Abstract 123P

Background

BLM (BLM RecQ Like Helicase) is a DNA helicase that plays an important role in maintaining genomic integrity. Researches have shown that dysfunction of BLM was associated with PD-L1 expression. This study aimed to reveal the relation between BLM-mutant and BLM-wild type tumors in tumor mutation burden (TMB) and microsatellite instability (MSI).

Methods

We retrospectively analyzed the BLM mutations of 15189 Chinese patients with pan-cancer during 2019-2021(Simcere Diagnosis, Nanjing, China). Next-generation sequencing (NGS) assessed somatic mutations in tumor tissue. We figured out BLM mutation frequency, TMB and MSI in BLM-mutant, BLM wild-type.

Results

BLM mutants were detected in 267 (1.8%) samples. The top 5 frequent cancers were lung cancer (66, 24.7%), colorectal cancer (64, 24.0%), liver cancer (31, 11.0%), gastric cancer (20, 7.5%) and endometrial cancer (12, 4.2%). BLM variants included missense/indel/insert (80.2%),truncation (10.5%), CNV (7.1%) splicing site variant (1.9%), and fusion (0.3%). The inactive variants are either frameshift mutations or splicing mutations, recurring in a few hot spots (N515Mfs*16/fs/Kfs*2, D757Tfs*4). And we found that the TMB and MSI in the BLM mutation group was significantly higher than that in the BLM wild-type group[TMB-H (TMB ≥10 musts/Mb): BLM-MUT vs BLM-WT, 52.1% vs 9.1%, p < 0.01; MSI-H: BLM-MUT vs BLM-WT, 27.0% vs1.0% p < 0.01]. And then, we separately analyzed the correlation between MSI, TMB and BLM gene mutation in the top 5 frequent cancers. Over 80% of patients with BLM mutations in colorectal and endometrial cancers have high TMB values[colorectal cancer (BLM-MUT vs BLM-WT, 87.5% vs 8.4%, p<0.001); endometrial cancer (BLM-MUT vs BLM-WT, 81.8% vs 17.4%, p<0.01)].

Conclusions

We analyzed BLM gene mutations in Chinese patients with solid tumor. Our data showed that BLM mutations were associated with higher TMB and MSI in solid tumors. Especially in colorectal cancer and endometrial cancer, over 80% of patients with BLM mutations have high TMB values. In short, our data showed that BLM mutations are important molecular marker of immunotherapy.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.

Funding

Has not received any funding.

Disclosure

All authors have declared no conflicts of interest.

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