Skip to Content
You are currently on the new version of our website. Access the old version .

965 Results Found

  • Review
  • Open Access
48 Citations
5,396 Views
13 Pages

Tumor Mutational Burden in Breast Cancer: Current Evidence, Challenges, and Opportunities

  • Romualdo Barroso-Sousa,
  • Jana Priscila Pacífico,
  • Sarah Sammons and
  • Sara M. Tolaney

7 August 2023

Tumor mutational burden (TMB) correlates with tumor neoantigen burden, T cell infiltration, and response to immune checkpoint inhibitors in many solid tumor types. Based on data from the phase II KEYNOTE-158 study, the anti-PD-1 antibody pembrolizuma...

(This article belongs to the Section Molecular Cancer Biology)
  • Case Report
  • Open Access
1,389 Views
9 Pages

Undifferentiated melanoma (UM) is a rare and diagnostically challenging subtype of malignant melanoma that often lacks traditional histological features and immunophenotypic expression. We report the case of a 58-year-old man with a history of a prev...

  • Review
  • Open Access
57 Citations
6,484 Views
23 Pages

8 February 2023

Hepatocellular carcinoma (HCC), the primary hepatic malignancy, represents the second-highest cause of cancer-related death worldwide. Many efforts have been devoted to finding novel biomarkers for predicting both patients’ survival and the out...

(This article belongs to the Special Issue Toward a New Era in the Management of Hepatocellular Carcinoma: Novel Perspective on Therapeutic Options and Biomarkers)
  • Article
  • Open Access
4,925 Views
19 Pages

Tumor Mutational Burden as a Prognostic Biomarker in Follicular Lymphoma

  • Marta Lafuente,
  • Ramón Diez-Feijóo,
  • Marta García-Recio,
  • Nieves Garcia-Gisbert and ,
  • Maria Concepción Fernández-Rodríguez,
  • Raquel Longarón,
  • Junjie Ji,
  • Bárbara Tazon-Vega,
  • Sergio Pinzón and
  • Antonio Salar
  • + 11 authors+ 6 authors

25 February 2026

Introduction: Follicular lymphoma (FL) is the most common indolent non-Hodgkin lymphoma. Approximately 20% of patients experience early relapse within 24 months (POD24) of immunochemotherapy (ICT), a subgroup associated with poor prognosis and not we...

(This article belongs to the Section Cancer Biomarkers)
  • Article
  • Open Access
2 Citations
2,786 Views
8 Pages

26 February 2022

Tumor mutational burden (TMB) refers to the number of somatic mutations in a tumor per megabase and is a biomarker for response to immune checkpoint inhibitor therapy. Immune checkpoint inhibitors are currently approved for tumors with TMB greater th...

(This article belongs to the Special Issue Next Generation Sequencing in Clinical Diagnostics)
  • Article
  • Open Access
7 Citations
1,861 Views
13 Pages

Tumor Mutational Burden in Cervical Cancer as Potential Marker for Immunotherapy Responders

  • Magdalena Ewa Kowalkowska,
  • Katarzyna Kamińska,
  • Joanna Wojtysiak,
  • Krzysztof Koper and ,
  • Adrianna Makarewicz,
  • Bronisława Pietrzak,
  • Dorota Bomba-Opoń,
  • Marzena Dębska,
  • Mirosław Wielgoś and
  • Marzena Anna Lewandowska
  • + 6 authors+ 1 author

10 September 2025

Background/Objectives: Tumor mutational burden (TMB) has emerged as a potential biomarker of response to immunotherapy across multiple solid tumors. However, its role in cervical cancer remains insufficiently defined. This study aimed to evaluate the...

(This article belongs to the Special Issue Cervical Cancer: Study on Molecular Landscape and Protein Biomarkers. Current Diagnostic and Therapeutic Capabilities)
  • Article
  • Open Access
1,274 Views
17 Pages

Proof of Concept for Tumor Mutational Burden Prediction Through Biophysical Analysis Based on UHF-Dielectrophoresis

  • Héloïse Daverat,
  • Nina Blasco,
  • Sandrine Robert,
  • Amandine Rovini and ,
  • Claire Dalmay,
  • Fabrice Lalloué,
  • Arnaud Pothier,
  • Karine Durand and
  • Thomas Naves
  • + 4 authors+ 0 author

25 February 2026

Tumor Mutational Burden (TMB) is a critical biomarker used to determine patient eligibility for immunotherapy with immune checkpoint inhibitors. However, its gold-standard assessment via whole exome sequencing is limited by high costs, technical comp...

(This article belongs to the Special Issue Advances in Biomarker-Based Diagnostics: From Discovery to Clinical Application)
  • Article
  • Open Access
8 Citations
3,119 Views
13 Pages

14 February 2023

Background: Tumor mutational burden (TMB) and stromal CD8-positive tumor-infiltrating lymphocytes (CD8+TILs) serve important roles in antitumor immune responses to radiotherapy. This study aimed to elucidate the association between TMB, CD8+TILs, and...

(This article belongs to the Special Issue The Development of Effective Therapy Targeting the Microenvironment of Cancer)
  • Perspective
  • Open Access
14 Citations
4,044 Views
9 Pages

Interplay between Tumor Mutational Burden and Mutational Profile and Its Effect on Overall Survival: A Pilot Study of Metastatic Patients Treated with Immune Checkpoint Inhibitors

  • Camila B. Xavier,
  • Carlos Diego H. Lopes,
  • Beatriz M. Awni,
  • Eduardo F. Campos and ,
  • João Pedro B. Alves,
  • Anamaria A. Camargo,
  • Gabriela D. A. Guardia,
  • Pedro A. F. Galante and
  • Denis L. Jardim
  • + 4 authors+ 0 author

4 November 2022

Purpose: Solid tumors harboring tumor mutational burden (TMB) ≥10 mutations per megabase (mut/Mb) received agnostic approval for pembrolizumab. This work aims to analyze the somatic mutational profile’s influence on the outcomes of patients...

(This article belongs to the Special Issue Biomarkers in the Era of Precision Oncology)
  • Article
  • Open Access
8 Citations
3,827 Views
13 Pages

CSMD1 Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer

  • Taobi Huang,
  • Yuan Liang,
  • Huiyun Zhang,
  • Xia Chen and ,
  • Hui Wei,
  • Weiming Sun and
  • Yuping Wang
  • + 2 authors+ 0 author

28 October 2021

Tumor mutational burden (TMB) is considered a potential biomarker for predicting the response and effect of immune checkpoint inhibitors (ICIs). To find specific gene mutations related to TMB and the prognosis of patients, the frequently mutated gene...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
1 Citations
3,581 Views
14 Pages

Association of Genomic Instability Score, Tumor Mutational Burden, and Tumor-Infiltrating Lymphocytes as Biomarkers in Uterine Serous Carcinoma

  • Elizabeth A. Bloom,
  • Pamela N. Peters,
  • Regina Whitaker,
  • Shonagh Russell and ,
  • Benjamin Albright,
  • Shelly Cummings,
  • Kirsten M. Timms,
  • Thomas Slavin,
  • Braden Probst and
  • Rebecca A. Previs
  • + 6 authors+ 1 author

15 January 2023

Background: Uterine serous carcinomas represent 10% of uterine carcinomas but account for nearly 40% of deaths from the disease. Improved molecular characterization of these tumors is instrumental in guiding targeted treatment and improving outcomes....

(This article belongs to the Special Issue Immune Microenviroment in Gynecologic Malignancies)
  • Article
  • Open Access
2 Citations
2,092 Views
13 Pages

PCLO Is Associated with Tumor Mutational Burden and Immunity in Patients with Oral Squamous Cell Carcinoma

  • Yuping Liu,
  • Ye Zhang,
  • Lijing Zhu,
  • Zheng Zhou and ,
  • Yajuan Cui,
  • Heyu Zhang and
  • Chuanxiang Zhou
  • + 2 authors+ 0 author

To determine predictive biomarkers for prognosis by analyzing the association between tumor mutational burden (TMB) and mutant genes in patients with oral squamous cell carcinoma (OSCC) and to validate PCLO as an OSCC predictive biomarker, OSCC genet...

(This article belongs to the Special Issue Oral Cancer: Prophylaxis, Etiopathogenesis and Treatment, 2nd Edition)
  • Article
  • Open Access
6 Citations
4,630 Views
15 Pages

Multi-Level Analysis and Identification of Tumor Mutational Burden Genes across Cancer Types

  • Shuangkuai Wang,
  • Yuantao Tong,
  • Hui Zong,
  • Xuewen Xu and ,
  • M. James C. Crabbe,
  • Ying Wang and
  • Xiaoyan Zhang
  • + 2 authors+ 0 author

17 February 2022

Tumor mutational burden (TMB) is considered a potential biomarker for predicting the response and effect of immune checkpoint inhibitors (ICIs). However, there are still inconsistent standards of gene panels using next-generation sequencing and poor...

(This article belongs to the Special Issue Bioinformatic Analysis of NGS Data)
  • Article
  • Open Access
6 Citations
5,067 Views
21 Pages

PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas—A Preclinical and Translational Study

  • Ymera Pignochino,
  • Giovanni Crisafulli,
  • Giorgia Giordano,
  • Alessandra Merlini and ,
  • Enrico Berrino,
  • Maria Laura Centomo,
  • Giulia Chiabotto,
  • Silvia Brusco,
  • Marco Basiricò and
  • Giovanni Grignani
  • + 13 authors+ 8 authors

15 December 2021

Drug-induced tumor mutational burden (TMB) may contribute to unleashing the immune response in relatively “immune-cold” tumors, such as sarcomas. We previously showed that PARP1 inhibition perpetuates the DNA damage induced by the chemoth...

(This article belongs to the Special Issue New Directions for Treating Soft Tissue Sarcomas)
  • Article
  • Open Access
1,222 Views
14 Pages

Prognostic Impact of Blood Tumor Mutational Burden in pMMR/MSS Metastatic Colorectal Cancer Assessed by FoundationOne® Liquid CDx

  • Benoist Chibaudel,
  • Elisabeth Carola,
  • Hamid Mekranter,
  • Perrine Goyer and ,
  • Arnaud Saget,
  • Olivier Oberlin,
  • Hélène Marijon,
  • Hubert Richa,
  • Ida Iurisci and
  • Aimery de Gramont
  • + 13 authors+ 8 authors

4 February 2026

Background/Objectives: The prognostic significance of blood tumor mutational burden (bTMB) in metastatic colorectal cancer (mCRC) remains poorly defined. While tissue-based TMB has been associated with favorable outcomes in selected colorectal cancer...

(This article belongs to the Section Cancer Pathophysiology)
  • Article
  • Open Access
2 Citations
2,370 Views
16 Pages

Homologous Recombination Repair Gene Alterations Are Associated with Tumor Mutational Burden and Survival of Immunotherapy

  • Mamoru Ito,
  • Makoto Kubo,
  • Hitomi Kawaji,
  • Yoshiki Otsubo and ,
  • Kanako Kurata,
  • Hikaru Abutani,
  • Mikita Suyama,
  • Yoshinao Oda,
  • Tomoharu Yoshizumi and
  • Eishi Baba
  • + 6 authors+ 1 author

27 November 2023

Background: Comprehensive genomic profiling (CGP) has become generally accepted practice in cancer care since CGP has become reimbursed by national healthcare insurance in Japan in 2019. However, its usefulness for cancer patients is insufficient for...

(This article belongs to the Section Molecular Cancer Biology)
  • Review
  • Open Access
3 Citations
1,362 Views
19 Pages

28 January 2026

Tumor mutational burden (TMB) is a key pan-cancer biomarker for immunotherapy selection, but its routine assessment by whole-exome sequencing (WES) or large next-generation sequencing (NGS) panels is costly, time-consuming, and constrained by tissue...

(This article belongs to the Special Issue Artificial Intelligence Applications in Healthcare and Precision Medicine, 2nd Edition)
  • Review
  • Open Access
36 Citations
5,379 Views
22 Pages

14 December 2023

A standardized assessment of Tumor Mutational Burden (TMB) poses challenges across diverse tumor histologies, treatment modalities, and testing platforms, requiring careful consideration to ensure consistency and reproducibility. Despite clinical tri...

(This article belongs to the Special Issue Tissue Agnostic Drug Development in Cancer)
  • Review
  • Open Access
124 Citations
10,329 Views
15 Pages

Tumor Mutational Burden as a Potential Biomarker for Immunotherapy in Pancreatic Cancer: Systematic Review and Still-Open Questions

  • Rita T. Lawlor,
  • Paola Mattiolo,
  • Andrea Mafficini,
  • Seung-Mo Hong and ,
  • Maria L. Piredda,
  • Sergio V. Taormina,
  • Giuseppe Malleo,
  • Giovanni Marchegiani,
  • Antonio Pea and
  • Claudio Luchini
  • + 11 authors+ 6 authors

22 June 2021

Tumor mutational burden (TMB) is a numeric index that expresses the number of mutations per megabase (muts/Mb) harbored by tumor cells in a neoplasm. TMB can be determined using different approaches based on next-generation sequencing. In the case of...

(This article belongs to the Special Issue Next Generation Sequencing Application in Cancer Research)
  • Article
  • Open Access
132 Citations
8,690 Views
21 Pages

Tumor Mutational Burden and Efficacy of Immune Checkpoint Inhibitors: A Systematic Review and Meta-Analysis

  • Jong Yeob Kim,
  • Andreas Kronbichler,
  • Michael Eisenhut,
  • Sung Hwi Hong and ,
  • Hans J. van der Vliet,
  • Jeonghyun Kang,
  • Jae Il Shin and
  • Gabriele Gamerith
  • + 3 authors+ 0 author

15 November 2019

Tumor mutational burden (TMB) is a genomic biomarker that predicts favorable responses to immune checkpoint inhibitors (ICIs). Here, we set out to assess the predictive value of TMB on long-term survival outcomes in patients undergoing ICIs. We syste...

(This article belongs to the Special Issue Cancer Biomarkers)
  • Article
  • Open Access
4 Citations
4,521 Views
12 Pages

DNA Damage Repair Gene Set as a Potential Biomarker for Stratifying Patients with High Tumor Mutational Burden

  • To-Yuan Chiu,
  • Ryan Weihsiang Lin,
  • Chien-Jung Huang,
  • Da-Wei Yeh and
  • Yu-Chao Wang

14 June 2021

Tumor mutational burden (TMB) is a promising predictive biomarker for cancer immunotherapy. Patients with a high TMB have better responses to immune checkpoint inhibitors. Currently, the gold standard for determining TMB is whole-exome sequencing (WE...

(This article belongs to the Special Issue Bioinformatics and Machine Learning for Cancer Biology)
  • Article
  • Open Access
26 Citations
4,058 Views
14 Pages

A Radiomics-Based Machine Learning Model for Prediction of Tumor Mutational Burden in Lower-Grade Gliomas

  • Luu Ho Thanh Lam,
  • Ngan Thy Chu,
  • Thi-Oanh Tran,
  • Duyen Thi Do and
  • Nguyen Quoc Khanh Le

18 July 2022

Glioma is a Center Nervous System (CNS) neoplasm that arises from the glial cells. In a new scheme category of the World Health Organization 2016, lower-grade gliomas (LGGs) are grade II and III gliomas. Following the discovery of suppression of nega...

(This article belongs to the Special Issue PET and MRI Radiomics in Cancer Predictive Modeling)
  • Case Report
  • Open Access
9 Citations
3,850 Views
10 Pages

10 November 2021

Poorly differentiated pancreatic neuroendocrine carcinomas (NECs) are rare and aggressive malignancies with rapid disease progression and early widespread metastasis. Given histology similarity, they are commonly treated with platinum-based chemother...

  • Article
  • Open Access
1,621 Views
13 Pages

Very High vs. High Tumor Mutational Burden Across Tumors: Real-World Associations with MSI, Pathway Features, and Immunotherapy Outcomes

  • Maria Fernanda Teixeira,
  • Victoria Tomaz,
  • Lucas Campos Barbosa e Silva,
  • Uelson Donizete and ,
  • Francisco Tustumi,
  • Helder Imoto Nakaya,
  • Juliana Rodrigues Beal,
  • Fernando Moura,
  • Mitesh J. Borad and
  • Pedro Luiz Serrano Uson Junior
  • + 6 authors+ 1 author

Background: Tumor mutational burden (TMB) is an FDA-approved biomarker for immune checkpoint inhibitor (ICI) therapy. However, its predictive value varies among tumor types and molecular contexts. We investigated whether a very high TMB identifies a...

(This article belongs to the Special Issue Gastrointestinal Diseases: From Pathophysiology to Innovative Therapeutic Approaches)
  • Review
  • Open Access
25 Citations
5,055 Views
19 Pages

From Tumor Mutational Burden to Blood T Cell Receptor: Looking for the Best Predictive Biomarker in Lung Cancer Treated with Immunotherapy

  • Andrea Sesma,
  • Julián Pardo,
  • Mara Cruellas,
  • Eva M. Gálvez and ,
  • Marta Gascón,
  • Dolores Isla,
  • Luis Martínez-Lostao,
  • Maitane Ocáriz,
  • José Ramón Paño and
  • Rodrigo Lastra
  • + 10 authors+ 5 authors

14 October 2020

Despite therapeutic advances, lung cancer (LC) is one of the leading causes of cancer morbidity and mortality worldwide. Recently, the treatment of advanced LC has experienced important changes in survival benefit due to immune checkpoint inhibitors...

(This article belongs to the Special Issue Diagnostic and Predictive Biomarkers in Lung Cancer)
  • Review
  • Open Access
22 Citations
5,815 Views
12 Pages

As tumor mutational burden (TMB) has been approved as a predictive biomarker for immune checkpoint inhibitors (ICIs), next-generation sequencing (NGS) TMB panels are being increasingly used clinically. However, only a few of them have been validated...

(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
  • Article
  • Open Access
16 Citations
6,634 Views
14 Pages

Assessment of Tumor Mutational Burden in Pediatric Tumors by Real-Life Whole-Exome Sequencing and In Silico Simulation of Targeted Gene Panels: How the Choice of Method Could Affect the Clinical Decision?

  • Hana Noskova,
  • Michal Kyr,
  • Karol Pal,
  • Tomas Merta and ,
  • Peter Mudry,
  • Kristyna Polaskova,
  • Tina Catela Ivkovic,
  • Sona Adamcova,
  • Tekla Hornakova and
  • Ondrej Slaby
  • + 8 authors+ 3 authors

17 January 2020

Background: Tumor mutational burden (TMB) is an emerging genomic biomarker in cancer that has been associated with improved response to immune checkpoint inhibitors (ICIs) in adult cancers. It was described that variability in TMB assessment is intro...

(This article belongs to the Special Issue Precision Medicine in Solid Tumors)
  • Article
  • Open Access
10 Citations
2,968 Views
13 Pages

28 July 2023

Introduction: We assessed the performance of F-18 fluorodeoxyglucose positron emission tomography (FDG PET)-based radiomics for the prediction of tumor mutational burden (TMB) and prognosis using a machine learning (ML) approach in patients with stag...

  • Article
  • Open Access
31 Citations
6,430 Views
13 Pages

In-house Implementation of Tumor Mutational Burden Testing to Predict Durable Clinical Benefit in Non-small Cell Lung Cancer and Melanoma Patients

  • Simon Heeke,
  • Jonathan Benzaquen,
  • Elodie Long-Mira,
  • Benoit Audelan and ,
  • Virginie Lespinet,
  • Olivier Bordone,
  • Salomé Lalvée,
  • Katia Zahaf,
  • Michel Poudenx and
  • Paul Hofman
  • + 15 authors+ 10 authors

29 August 2019

Tumor mutational burden (TMB) has emerged as an important potential biomarker for prediction of response to immune-checkpoint inhibitors (ICIs), notably in non-small cell lung cancer (NSCLC). However, its in-house assessment in routine clinical pract...

(This article belongs to the Special Issue Application of Next-Generation Sequencing in Cancers)
  • Article
  • Open Access
12 Citations
3,239 Views
15 Pages

Maximum Somatic Allele Frequency-Adjusted Blood-Based Tumor Mutational Burden Predicts the Efficacy of Immune Checkpoint Inhibitors in Advanced Non-Small Cell Lung Cancer

  • Yiting Dong,
  • Yixiang Zhu,
  • Minglei Zhuo,
  • Xiaomin Chen and ,
  • Yinpeng Xie,
  • Jianchun Duan,
  • Hua Bai,
  • Shiguang Hao,
  • Zicheng Yu and
  • Zhijie Wang
  • + 11 authors+ 6 authors

17 November 2022

Introduction: Recent studies exhibited the unstable prediction ability of blood-based tumor mutational burden (bTMB) when predicting the response of immune checkpoint inhibitors (ICIs) therapy in patients with non-small cell lung cancer (NSCLC). Circ...

(This article belongs to the Section Cancer Therapy)
  • Article
  • Open Access
2 Citations
3,635 Views
13 Pages

11 September 2023

During recent years, activating mutations in ERBB2 have been reported in solid tumors of various organs, and clinical trials targeting ERBB2-mutant tumors have been conducted. However, no effective treatment has been established for gastrointestinal...

(This article belongs to the Special Issue Advances in Molecular Pathogenesis Regulation in Cancer, 2nd Edition)
  • Article
  • Open Access
36 Citations
3,930 Views
12 Pages

30 December 2022

Co-infection of Helicobacter pylori and Fusobacterium nucleatum is a microbial biomarker for poor prognosis of gastric cancer patients. Fusobacterium nucleatum is associated with microsatellite instability and the accumulation of mutations in colorec...

(This article belongs to the Special Issue Gastrointestinal Malignancies in the Era of Precision Oncology: From Bench to Bedside and Back Again)
  • Article
  • Open Access
34 Citations
4,654 Views
16 Pages

Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas

  • Guangyang Yu,
  • Ying Pang,
  • Mythili Merchant,
  • Chimene Kesserwan and ,
  • Vineela Gangalapudi,
  • Abdalla Abdelmaksoud,
  • Alice Ranjan,
  • Olga Kim,
  • Jun S. Wei and
  • Jing Wu
  • + 15 authors+ 10 authors

3 December 2021

Background: A consistent correlation between tumor mutation burden (TMB) and tumor immune microenvironment has not been observed in gliomas as in other cancers. Methods: Driver germline and somatic mutations, TMB, neoantigen, and immune cell signatur...

(This article belongs to the Special Issue Updates on Molecular Targeted Therapies for CNS Tumors)
  • Article
  • Open Access
16 Citations
3,564 Views
11 Pages

18 September 2023

SYNE1, a nuclear envelope protein critical for cellular structure and signaling, is downregulated in numerous malignancies. SYNE1 alterations are found in 10% of gynecologic malignancies and 5% of epithelial ovarian cancers. Previous studies demonstr...

(This article belongs to the Special Issue Ovarian Cancer: Advances on Pathophysiology and Therapies)
  • Article
  • Open Access
2,034 Views
22 Pages

Clinical and Molecular Differences Suggest Different Responses to Immune Checkpoint Inhibitors in Microsatellite-Stable Solid Tumors with High Tumor Mutational Burden

  • Imran Nizamuddin,
  • Tarik Demir,
  • Katrina Dobinda,
  • Ruohui Chen and ,
  • Masha Kocherginsky,
  • Peter Doukas,
  • Neelima Katam,
  • Carolyn Moloney and
  • Devalingam Mahalingam
  • + 4 authors+ 0 author

16 August 2025

Background/Objectives: We aim to identify predictors of response to ICIs in patients with advanced solid tumors that exhibiting a TMB ≥ 10 mut/Mb. Methods: Patients treated with ICIs alone at Northwestern University between 1 January 2015 and 31 D...

(This article belongs to the Special Issue Biomarkers for Therapy Response in Gastrointestinal Malignancies: Predicting Outcomes and Personalizing Care)
  • Article
  • Open Access
12 Citations
3,517 Views
11 Pages

Predicting Tumor Mutation Burden and EGFR Mutation Using Clinical and Radiomic Features in Patients with Malignant Pulmonary Nodules

  • Wenda Yin,
  • Wei Wang,
  • Chong Zou,
  • Ming Li and ,
  • Hao Chen,
  • Fanchen Meng,
  • Guozhang Dong,
  • Jie Wang,
  • Qian Yu and
  • Rong Yin
  • + 9 authors+ 4 authors

22 December 2022

Pulmonary nodules (PNs) shown as persistent or growing ground-glass opacities (GGOs) are usually lung adenocarcinomas or their preinvasive lesions. Tumor mutation burden (TMB) and somatic mutations are important determinants for the choice of strateg...

(This article belongs to the Section Omics/Informatics)
  • Review
  • Open Access
50 Citations
7,623 Views
17 Pages

The Efficacy of Tumor Mutation Burden as a Biomarker of Response to Immune Checkpoint Inhibitors

  • Camille Moeckel,
  • Katrina Bakhl,
  • Ilias Georgakopoulos-Soares and
  • Apostolos Zaravinos

Cancer is one of the leading causes of death in the world; therefore, extensive research has been dedicated to exploring potential therapeutics, including immune checkpoint inhibitors (ICIs). Initially, programmed-death ligand-1 was the biomarker uti...

(This article belongs to the Special Issue Latest Review Papers in Molecular Genetics and Genomics 2023)
  • Article
  • Open Access
34 Citations
5,540 Views
13 Pages

Molecular Subtyping and Prognostic Assessment Based on Tumor Mutation Burden in Patients with Lung Adenocarcinomas

  • Changzheng Wang,
  • Han Liang,
  • Cong Lin,
  • Fuqiang Li and ,
  • Guoyun Xie,
  • Sitan Qiao,
  • Xulian Shi,
  • Jianlian Deng,
  • Xin Zhao and
  • Xiuqing Zhang
  • + 6 authors+ 1 author

30 August 2019

The distinct molecular subtypes of lung cancer are defined by monogenic biomarkers, such as EGFR, KRAS, and ALK rearrangement. Tumor mutation burden (TMB) is a potential biomarker for response to immunotherapy, which is one of the measures for genomi...

(This article belongs to the Section Molecular Oncology)
  • Article
  • Open Access
38 Citations
6,140 Views
18 Pages

24 February 2022

Background: Urothelial bladder carcinomas had traditionally been difficult to treat cancers, with high morbidity and mortality rates when invasive and metastatic. In recent years, immunotherapy with immune checkpoint inhibitors has improved outcomes...

(This article belongs to the Special Issue Current Advances in Clinical Genomics and Treatment of Urothelial Carcinoma)
  • Article
  • Open Access
49 Citations
7,673 Views
15 Pages

PD-L1 Expression Is Significantly Associated with Tumor Mutation Burden and Microsatellite Instability Score

  • Yoon Ah Cho,
  • Hyunwoo Lee,
  • Deok Geun Kim,
  • Hyunjin Kim and ,
  • Sang Yun Ha,
  • Yoon-La Choi,
  • Kee-Taek Jang and
  • Kyoung-Mee Kim
  • + 3 authors+ 0 author

16 September 2021

Programmed death-ligand 1 (PD-L1) immunohistochemistry (IHC), microsatellite instability (MSI), and tumor mutation burden (TMB) have been proposed as a predictive biomarker to predict response to immune checkpoint blockade (ICB). We aimed to find the...

(This article belongs to the Topic Oncogenomics and Pediatric Health)
  • Article
  • Open Access
19 Citations
4,874 Views
17 Pages

Tumor mutation burdens (TMBs) act as an indicator of immunotherapeutic responsiveness in various tumors. However, the relationship between TMBs and immune cell infiltrates in hepatocellular carcinoma (HCC) is still obscure. The present study aimed to...

(This article belongs to the Topic Artificial Intelligence in Cancer Diagnosis and Therapy)
  • Article
  • Open Access
10 Citations
5,899 Views
14 Pages

Integration of Tumor Mutation Burden and PD-L1 Testing in Routine Laboratory Diagnostics in Non-Small Cell Lung Cancer

  • Stefanie Schatz,
  • Markus Falk,
  • Balázs Jóri,
  • Hayat O. Ramdani and ,
  • Stefanie Schmidt,
  • Eva-Maria Willing,
  • Roopika Menon,
  • Harry J. M. Groen,
  • Linda Diehl and
  • Lukas C. Heukamp
  • + 10 authors+ 5 authors

24 June 2020

In recent years, Non-small cell lung cancer (NSCLC) has evolved into a prime example for precision oncology with multiple FDA-approved “precision” drugs. For the majority of NSCLC lacking targetable genetic alterations, immune checkpoint...

(This article belongs to the Special Issue PD-L1/PD1 Modulation Mechanisms in Lung Cancer: From Basic to Translational Evidences)
  • Communication
  • Open Access
5 Citations
3,471 Views
8 Pages

14 September 2022

Detecting microsatellite instability (MSI) in advanced cancers is crucial for clinical decision-making, as it helps in identifying patients with differential treatment responses and prognoses. BAT26 is a highly sensitive MSI marker that defines the m...

(This article belongs to the Section Molecular Biology)
  • Article
  • Open Access
6 Citations
4,292 Views
19 Pages

Background: Tumor mutation burden (TMB), a genomic biomarker, has proven to be a strong predictor of immunotherapy response but is not widely adopted. This study investigates the association between TMB and immune checkpoint inhibitors (ICIs) respons...

  • Article
  • Open Access
8 Citations
3,792 Views
20 Pages

Evaluation of Blood Tumor Mutation Burden for the Efficacy of Second-Line Atezolizumab Treatment in Non-Small Cell Lung Cancer: BUDDY Trial

  • Cheol-Kyu Park,
  • Ha Ra Jun,
  • Hyung-Joo Oh,
  • Ji-Young Lee and ,
  • Hyun-Ju Cho,
  • Young-Chul Kim,
  • Jeong Eun Lee,
  • Seong Hoon Yoon,
  • Chang Min Choi and
  • In-Jae Oh
  • + 9 authors+ 4 authors

25 April 2023

This study aimed to investigate the feasibility of blood-based biomarkers, including blood tumor mutation burden (bTMB), to predict atezolizumab efficacy in relapsed and advanced non-small cell lung cancer (NSCLC). Stage IV NSCLC patients who had pre...

(This article belongs to the Special Issue Liquid Biopsy in Complex Diseases)
  • Article
  • Open Access
3 Citations
3,901 Views
16 Pages

Effects of a Novel Thiadiazole Derivative with High Anticancer Activity on Cancer Cell Immunogenic Markers: Mismatch Repair System, PD-L1 Expression, and Tumor Mutation Burden

  • Sofia Sagredou,
  • Panagiotis Dalezis,
  • Eirini Papadopoulou,
  • Maria Voura and ,
  • Maria V. Deligiorgi,
  • Michail Nikolaou,
  • Mihalis I. Panayiotidis,
  • George Nasioulas,
  • Vasiliki Sarli and
  • Dimitrios T. Trafalis
  • + 5 authors+ 0 author

Microsatellite instability (MSI), tumor mutation burden (TMB), and programmed cell death ligand-1 (PD-L1) are particularly known as immunotherapy predictive biomarkers. MSI and TMB are closely related to DNA mismatch repair (MMR) pathway functionalit...

(This article belongs to the Section Drug Targeting and Design)
  • Article
  • Open Access
5 Citations
2,902 Views
15 Pages

Aluminum Concentration Is Associated with Tumor Mutational Burden and the Expression of Immune Response Biomarkers in Colorectal Cancers

  • Rita Bonfiglio,
  • Erica Giacobbi,
  • Valeria Palumbo,
  • Stefano Casciardi and ,
  • Renata Sisto,
  • Francesca Servadei,
  • Maria Paola Scioli,
  • Stefania Schiaroli,
  • Elena Cornella and
  • Manuel Scimeca
  • + 10 authors+ 5 authors

13 December 2024

Environmental pollution poses a significant risk to public health, as demonstrated by the bioaccumulation of aluminum (Al) in colorectal cancer (CRC). This study aimed to investigate the potential mutagenic effect of Al bioaccumulation in CRC samples...

(This article belongs to the Collection Feature Papers in Molecular Pathology, Diagnostics, and Therapeutics)
  • Article
  • Open Access
571 Views
19 Pages

Mutational Landscape of FGFR4 Across Malignancies: A Cross-Cancer Analysis of the AACR Project GENIE Database

  • Henna Ali,
  • Tyler Gengnagel,
  • Salem Birkholz,
  • Gowri Vadmal and ,
  • Elijah Torbenson,
  • Beau Hsia,
  • Abubakar Tauseef and
  • Peter T. Silberstein
  • + 3 authors+ 0 author

Background/Aim: Fibroblast growth factor receptor 4 (FGFR4) is a tyrosine kinase involved in cell growth, proliferation, and angiogenesis. While FGFR1–3 are well studied in cancer, FGFR4 remains relatively understudied, and the distribution of...

(This article belongs to the Special Issue Future Challenges of Targeted Therapy of Cancers, 3rd Edition)
  • Article
  • Open Access
7 Citations
3,578 Views
10 Pages

Solid Organ Transplantation Is Associated with an Increased Rate of Mismatch Repair Deficiency and PIK3CA Mutations in Colorectal Cancer

  • Eric S. Christenson,
  • Valerie Lee,
  • Hao Wang,
  • Mark Yarchoan and ,
  • Ana De Jesus-Acosta,
  • Nilo Azad,
  • Ahmet Gurakar,
  • Ming-Tseh Lin,
  • Dung T. Le and
  • Katherine Bever
  • + 7 authors+ 2 authors

21 December 2022

Solid organ transplants are associated with a modestly increased risk of colorectal cancers (CRC). However, the molecular profile of these cancers has not been described. We hypothesized that transplant-related immunosuppression may promote developme...

(This article belongs to the Section Gastrointestinal Oncology)
  • Article
  • Open Access
1 Citations
1,189 Views
16 Pages

Integrated Molecular Profiling of Colorectal Cancer by Tumor Location: Evidence from a Real-World Cohort with Primary and Metastatic Samples

  • Andreea-Raluca Cozac-Szoke,
  • Ovidiu Simion Cotoi,
  • Ute Mauer,
  • Konrad Steinestel and
  • Annette Arndt

18 February 2026

Background/Objectives: Colorectal cancer (CRC) shows significant molecular diversity influenced by tumor location. Right- and left-sided CRCs differ in terms of microsatellite instability (MSI), mutational burden, and actionable biomarkers. This stud...

(This article belongs to the Special Issue Oncologic Pathology: Diagnostic Challenges, Molecular Advances, and Clinical Correlations)

of 20