» Articles » PMID: 35018111

Mutations in the Gene Are a Prognostic Factor for Patients with Lung Squamous Cell Carcinomas

Overview
Journal Int J Gen Med
Publisher Dove Medical Press
Specialty General Medicine
Date 2022 Jan 12
PMID 35018111
Authors
Affiliations
Soon will be listed here.
Abstract

Purpose: To analyze the relationship between titin () mutation gene and tumor mutational burden (TMB) and the with prognosis of lung squamous cell carcinomas (LUSC), and to explore the feasibility of as a potential prognostic marker of for LUSC.

Methods: We analyzed the somatic mutation landscape of LUSC samples using datasets obtained from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) databases. Sequence data were divided into wild and mutant groups, and differences in TMB values between the groups compared using a Mann-Whitney -test. The Kaplan Meier method was used to analyze the correlation between mutation and LUSC prognosis, whereas CIBERSORT algorithm was used to calculate the degree of relative enrichment degree of among tumor-infiltrating lymphocytes in LUSC.

Results: Analysis of both datasets revealed high mutations in the gene, with mutants exhibiting a significantly higher TMB value relative to the wild-type (P < 0.001). Prognosis of the TTN mutant group in LUSC was significantly better than that of wild-type (P = 0.009). Kaplan Meier curves showed that TTN mutation may be an independent prognostic factor in LUSC patients (HR: 0.64, 95% CI 0.48-0.85, P = 0.001), while GSEA analysis revealed that TTN mutation plays a potential role in the development of LUSC. Finally, analysis of LUSC immune microenvironment revealed that mutation was significantly associated with enrichment of macrophages M1 (p < 0.05).

Conclusion: mutation is associated with TMB, and is positively correlated with prognosis of LUSC. Therefore, this mutation may serve as a potential prognostic indicator of LUSC.

Citing Articles

Tumor-Associated Macrophages: Key Players in the Non-Small Cell Lung Cancer Tumor Microenvironment.

Lv T, Fan R, Wu J, Gong H, Gao X, Liu X Cancer Med. 2025; 14(3):e70670.

PMID: 39927632 PMC: 11808749. DOI: 10.1002/cam4.70670.


Clinicopathological and molecular features of lung cancers associated with cystic airspaces: an analysis of 34 cases.

Zhou F, Liu W, Ding C, Di L, Sun G J Thorac Dis. 2025; 16(12):8309-8316.

PMID: 39831239 PMC: 11740048. DOI: 10.21037/jtd-24-1310.


Titin gene mutations enhance radiotherapy efficacy via modulation of tumour immune microenvironment in rectum adenocarcinoma.

Liu H, Liu J, Guan X, Zhao Z, Cheng P, Chen H Clin Transl Med. 2025; 15(1):e70123.

PMID: 39748197 PMC: 11695211. DOI: 10.1002/ctm2.70123.


Gender and melanoma subtype-based prognostic implications of MUC16 and TTN co-occurrent mutations in melanoma: A retrospective multi-study analysis.

Kodali N, Alomary S, Bhattaru A, Eldaboush A, Schwartz R, Lipner S Cancer Med. 2024; 13(17):e70199.

PMID: 39240165 PMC: 11378355. DOI: 10.1002/cam4.70199.


Analysis of the interlink between glucose-6-phosphate dehydrogenase (G6PD) and lung cancer through multi-omics databases.

Thakor P, Siddiqui M, Patel T Heliyon. 2024; 10(15):e35158.

PMID: 39165939 PMC: 11334843. DOI: 10.1016/j.heliyon.2024.e35158.


References
1.
Chen H, Chong W, Wu Q, Yao Y, Mao M, Wang X . Association of Mutation With Tumor Mutation Burden and Outcomes in Melanoma and Non-small Cell Lung Cancer Patients Treated With Immune Check-Point Blockades. Front Immunol. 2019; 10:1113. PMC: 6536574. DOI: 10.3389/fimmu.2019.01113. View

2.
Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S . A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN. J Neurol Neurosurg Psychiatry. 2016; 87(8):851-8. DOI: 10.1136/jnnp-2015-311541. View

3.
Li X, Pasche B, Zhang W, Chen K . Association of MUC16 Mutation With Tumor Mutation Load and Outcomes in Patients With Gastric Cancer. JAMA Oncol. 2018; 4(12):1691-1698. PMC: 6440715. DOI: 10.1001/jamaoncol.2018.2805. View

4.
Mayakonda A, Lin D, Assenov Y, Plass C, Koeffler H . Maftools: efficient and comprehensive analysis of somatic variants in cancer. Genome Res. 2018; 28(11):1747-1756. PMC: 6211645. DOI: 10.1101/gr.239244.118. View

5.
Addeo A, Friedlaender A, Banna G, Weiss G . TMB or not TMB as a biomarker: That is the question. Crit Rev Oncol Hematol. 2021; 163:103374. DOI: 10.1016/j.critrevonc.2021.103374. View