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GENE:

TTN (Titin)

i
Other names: TTN, Titin, Rhabdomyosarcoma Antigen MU-RMS-40.14, Connectin, Cardiomyopathy Dilated 1G (Autosomal Dominant), LGMDR10, LGMD2J, CMPD4, EOMFC, HMERF, MYLK5, SALMY, CMD1G, CMH9, TMD
14d
Machine learning-based programmed cell death signature model for precise prediction of prognosis and treatment response in melanoma (PubMed, Zhong Nan Da Xue Xue Bao Yi Xue Ban)
PCDS is a cross-cohort robust tool for predicting melanoma prognosis and immunotherapy benefit, reflecting the degree of immunosuppression in the tumor immune microenvironment and myeloid/macrophage-related immunoregulatory features, and provides a basis for individualized risk stratification and potential drug selection. This study provides an in-depth elucidation of the regulatory mechanisms of PCD in the tumor immune microenvironment and offers an important theoretical foundation for personalized treatment decision-making in melanoma patients.
Journal • IO biomarker
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CD8 (cluster of differentiation 8) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • CD4 (CD4 Molecule)
17d
Tumor microenvironment changes after treatment with avelumab and immune- stimulating agent combinations in patients with advanced solid tumors. (PubMed, Res Sq)
Methods We performed whole exome sequencing (WES), bulk RNAseq, multiplex immunofluorescence (mIF) and chromogenic immunohistochemistry (IHC) on tumor tissue and flow cytometry of the peripheral blood to study longitudinal changes following the combination of avelumab with utomilumab (a 4-1BB agonist) (arm A), PF-04518600 (an OX40 agonist) (arm B), utomilumab and PF-04518600 (arm C) and utomilumab and radiotherapy (arm D) in phase I/II study (NCT03217747). Conclusions Our findings, though limited, highlight genomic differences between histologic subsets and outcome as well as the need for combination strategies that drive the recruitment and/or priming of anti-tumor T cells and address low immune permissive tumor states in patients with advanced solid tumors. Clinical trial registration: This clinical trial was registered on clinicaltrials.gov NCT03217747.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • CCNE1 (Cyclin E1) • IFNG (Interferon, gamma) • TTN (Titin)
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TP53 mutation • KRAS mutation • KRAS G12C • KRAS G12D • TMB-L • KRAS G12
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Bavencio (avelumab) • utomilumab (PF-05082566) • ivuxolimab (PF-04518600)
1m
Genetic Landscape of Oral Cavity Squamous Cell Carcinoma. (PubMed, OTO Open)
A high tumor mutational burden (>10) is rare in oral cavity squamous cell carcinoma. Further research into the interplay between genetic mutations and patient outcomes is needed.
Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDH1 (Cadherin 1) • FAT1 (FAT atypical cadherin 1) • TTN (Titin)
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TP53 mutation • TMB-H • TP53 wild-type
1m
Journal
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TTN (Titin)
1m
The varied functions of the giant muscle scaffold protein obscurin. (PubMed, Front Cell Dev Biol)
Potential tumor-suppressing properties have been revealed through OBSCN lncRNAs and epigenetic regulation. This review aims to provide a comprehensive overview of obscurin's molecular functions and interactions by discussing the effects of its differential expression and its interactions with binding partners, along with the differences and similarities between vertebrate and invertebrate obscurin.
Review • Journal
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TTN (Titin) • OBSCN (Obscurin) • SPEG (Striated Muscle Enriched Protein Kinase)
2ms
Immune Checkpoint Inhibitor-Induced Concomitant Polyradiculoneuritis and Myocarditis With Positive Anti-Titin Antibodies: A Case Report and Literature Review. (PubMed, Crit Care Explor)
This is the first reported case of seropositive, overlap irAEs consisting of myocarditis and polyradiculoneuritis. Early immunosuppressive therapy can alleviate irAEs but can also lead to serious complications in frail patients. This underscores the importance of carefully balancing expected therapeutic benefits against potential risks.
Review • Journal • Checkpoint inhibition
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PD-L1 (Programmed death ligand 1) • TTN (Titin)
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Jakafi (ruxolitinib)
2ms
Clinical characteristics of myasthenia gravis patients with coexistence of AChR and titin antibodies. (PubMed, Front Neurol)
This study provides the first systematic characterization of the clinical profile of AChR-Ab+/Titin-Ab+ myasthenia gravis patients in Southwest China. Our findings indicate that dual antibody-positive MG patients are more prone to generalized disease involvement and have a higher susceptibility to thyroid dysfunction.
Journal
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TTN (Titin)
3ms
Whole genome characterization of patient-derived lung cancer organoids. (PubMed, Transl Lung Cancer Res)
Our comprehensive genomic characterization of patient-derived LCOs provides valuable insights into the mutational landscape and evolutionary dynamics of lung cancer. These well-annotated organoid models serve as a powerful resource for investigating tumor biology and developing genomically informed therapeutic strategies.
Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin)
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TP53 mutation • TMB-H
3ms
Screening telomere-related genes to predict prognosis, immunotherapy response, and drug sensitivity in esophageal cancer using a machine learning approach. (PubMed, J Cardiothorac Surg)
A TRGs-based prognostic model effectively predicts survival in EC and reveals associations with somatic mutations, immune infiltration, and drug sensitivity. Functional validation of PTGES3 further supports its potential as a therapeutic target.
Journal • IO biomarker
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TP53 (Tumor protein P53) • TTN (Titin) • PTGES (Prostaglandin E Synthase)
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TP53 mutation
3ms
Delta-like ligand 4 mediated myeloid-derived suppressor cell metabolic reprogramming promotes neoadjuvant therapy resistance in titin-inactivated triple-negative breast cancer. (PubMed, Mol Biomed)
Blocking the DLL4-MCT4 axis stimulated anti-tumor immunity and synergized with anti-PD-1, improving response rates for first-line neoadjuvant therapy in TNBC. Our study revealed intrinsic mechanism by which TTN regulates the tumor immune microenvironment and provided a potential target for immunotherapy in TNBC with TTN inactivation.
Journal • PD(L)-1 Biomarker • IO biomarker
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CD8 (cluster of differentiation 8) • NOTCH2 (Notch 2) • TTN (Titin) • DLL4 (Delta Like Canonical Notch Ligand 4)
4ms
Effect of chemotherapy on passenger mutations in metastatic colorectal cancer. (PubMed, Mol Oncol)
Our findings demonstrate that chemotherapy may selectively reduce passenger mutations in mCRC, potentially influencing the persistence of hypermutated subclones. This highlights the potential role of passenger mutation patterns and TMB as biomarkers for treatment response and raises the hypothesis that they could help guide immunotherapy considerations for patients with MSS mCRC.
Journal • Tumor mutational burden • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • TTN (Titin)
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TP53 mutation • KRAS mutation • TMB-H
4ms
Unveiling HJURP as a Biomarker of Poor Prognosis and Immunotherapy Resistance in Lung Adenocarcinoma: A Multicenter Study. (PubMed, Clin Med Insights Oncol)
Holliday junction recognition protein emerges as a significant biomarker in LUAD, consistently associated with poor prognosis across multiple cohorts. Its role in various oncogenic pathways and correlation with advanced disease stages underscore the potential of HJURP as a target for therapeutic intervention and as a marker for prognosis in LUAD.
Clinical • Journal • IO biomarker
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TP53 (Tumor protein P53) • TTN (Titin)
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TP53 mutation