Exploration of Targeted Anti-tumor Therapy

Special Issue Topic

Predictive and Prognostic Biomarkers in Cancer: Towards the Precision Medicine Era

Submission Deadline: February 28, 2025

Guest Editors

Prof. Luca Falzone E-Mail

Department of Biomedical and Biotechnological Sciences, University of Catania, Italy

Research Keywords: Molecular oncology, epigenetics, biomarker discovery, liquid biopsy

Dr. Antonio Rizzo E-Mail

Division of Pathology, Humanitas Istituto Clinico Catanese, Catania, Italy

Research Keywords: Breast cancer, pathology, immunohistochemistry, molecular pathology

Dr. Stefano Marletta E-Mail

Division of Pathology, Humanitas Istituto Clinico Catanese, Catania, Italy; Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Italy

Research Keywords: Digital pathology, cancer immunity, immunopathology, immunohistochemistry

Dr. Graziana Spoto E-Mail

Division of Pathology, Humanitas Istituto Clinico Catanese, Catania, Italy

Research Keywords: Oncogenetics, hereditary tumors, molecular biology, molecular diagnostics, predictive biomarkers

About the Special Issue

In recent years, cancer research has experienced significant advancements in understanding the molecular mechanisms associated with the development and progression of tumors. These advancements have highlighted the importance of predictive and prognostic biomarkers in guiding therapeutic decisions and improving clinical outcomes. Predictive biomarkers are crucial for identifying patients likely to respond to specific treatments, while prognostic biomarkers provide information on disease progression regardless of the therapy received.
This special issue is dedicated to the exploration and characterization of predictive and prognostic biomarkers in the context of cancer diagnosis and management, aiming to promote the era of precision medicine. We invite contributions covering a wide range of topics, including but not limited to the discovery of new biomarkers through already acknowledged and novel advanced technologies, such as immunohistochemistry and next-generation sequencing; the clinical application and meaning of existing biomarkers; technological advancements in biomarker discovery and analysis; case studies on the successful implementation of precision medicine in oncology. Studies exploring the integration of omics data, bioinformatics, and artificial intelligence for identifying and validating biomarkers will be particularly appreciated. Additionally, we welcome research examining the role of epigenetic biomarkers, tissue markers (i.e. immunohistochemistry, in situ hybridization techniques), liquid biopsies, and circulating tumor cells in early diagnosis, prognosis, and drug resistance.
This special issue aims to bring together researchers, clinicians, and translational scientists to discuss the latest discoveries and future directions in predictive and prognostic biomarker research. Our goal is to foster interdisciplinary collaborations and accelerate the implementation of precision medicine strategies in cancer treatment.

Keywords: Predictive biomarkers, prognostic biomarkers, precision medicine, cancer genomics, molecular oncology, next-generation sequencing, bioinformatics, multi-omics, liquid biopsy

Call for Papers

Published Articles

Open Access

Original Article

Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort
Aim: Penile cancer (PeCa) is a rare malignancy strongly associated with poor genital hygiene and is more prevalent in regions with low socioeconomic status. PeCa accounts for approximately 2% to [...] Read more.

Aim:

Penile cancer (PeCa) is a rare malignancy strongly associated with poor genital hygiene and is more prevalent in regions with low socioeconomic status. PeCa accounts for approximately 2% to 4% of all male cancers in Brazil, with higher incidence in the North and Northeast regions. Despite its aggressive nature, the molecular mechanisms underlying PeCa remain poorly understood. We performed whole-exome sequencing in a Brazilian cohort of patients with PeCa to identify potentially pathogenic genetic alterations associated with tumor development and progression.

Methods:

Tumor tissue samples were obtained from patients diagnosed with PeCa. DNA was extracted and subjected to whole-exome sequencing. Human papillomavirus (HPV) genotyping was performed for subtypes 16 and 18. Control samples were collected from individuals without PeCa or other genital diseases.

Results:

The cohort demonstrated considerable genetic heterogeneity. Multiple gene mutations were identified in tumor samples, many of which are involved in carcinogenesis-related biological pathways. Distinct molecular profiles were observed, suggesting diverse tumorigenic mechanisms. MUC16 (present in 11/12 patients, 91.7%) and PABPC1 (8/12 patients, 66.7%) were the most frequently mutated genes. HPV-16 was detected in a subset of cases; however, no consistent association with more aggressive disease was identified.

Conclusions:

This study provides new insights into the genomic landscape of PeCa in a Brazilian population. The findings highlight the presence of heterogeneous and potentially pathogenic mutations, reinforcing the need for further molecular characterization and exploration of novel therapeutic targets in PeCa.

Renato Mendes Rossi De Lucca ... Rodolfo Borges dos Reis

Published: June 06, 2025 Explor Target Antitumor Ther. 2025;6:1002323
DOI: https://doi.org/10.37349/etat.2025.1002323

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Aim:

Penile cancer (PeCa) is a rare malignancy strongly associated with poor genital hygiene and is more prevalent in regions with low socioeconomic status. PeCa accounts for approximately 2% to 4% of all male cancers in Brazil, with higher incidence in the North and Northeast regions. Despite its aggressive nature, the molecular mechanisms underlying PeCa remain poorly understood. We performed whole-exome sequencing in a Brazilian cohort of patients with PeCa to identify potentially pathogenic genetic alterations associated with tumor development and progression.

Methods:

Tumor tissue samples were obtained from patients diagnosed with PeCa. DNA was extracted and subjected to whole-exome sequencing. Human papillomavirus (HPV) genotyping was performed for subtypes 16 and 18. Control samples were collected from individuals without PeCa or other genital diseases.

Results:

The cohort demonstrated considerable genetic heterogeneity. Multiple gene mutations were identified in tumor samples, many of which are involved in carcinogenesis-related biological pathways. Distinct molecular profiles were observed, suggesting diverse tumorigenic mechanisms. MUC16 (present in 11/12 patients, 91.7%) and PABPC1 (8/12 patients, 66.7%) were the most frequently mutated genes. HPV-16 was detected in a subset of cases; however, no consistent association with more aggressive disease was identified.

Conclusions:

This study provides new insights into the genomic landscape of PeCa in a Brazilian population. The findings highlight the presence of heterogeneous and potentially pathogenic mutations, reinforcing the need for further molecular characterization and exploration of novel therapeutic targets in PeCa.

Open Access

Review

Exploring recent advances in signaling pathways and hallmarks of uveal melanoma: a comprehensive review
The purpose of this review was to provide a comprehensive review of the latest insights on the pathogenesis of uveal melanoma (UM) and its intracellular pathways. This article covers the epidemiolog [...] Read more.

The purpose of this review was to provide a comprehensive review of the latest insights on the pathogenesis of uveal melanoma (UM) and its intracellular pathways. This article covers the epidemiology of UM, racial predispositions, cytogenetic and chromosomal alterations, gene mutations, key defective pathways, and their underlying mechanisms, as well as the application of hallmarks of cancer to UM. A key knowledge gap remains in identifying the most effective targeted therapy and determining the central pathway linking multiple signaling networks. UM is a malignant tumor arising from uveal melanocytes, predominantly affecting the choroid, with both genetic and epigenetic contributors. Key cytogenetic alterations include monosomy 3, chromosome 6p gain, chromosome 1p loss, and chromosome 8q gain. The most important UM-related signaling pathways are RAS/MAPK, PI3K/Akt/mTOR, Hippo-YAP, retinoblastoma (Rb), and p53 pathways. In the RAS/MAPK pathway, GNAQ/GNA11 mutations occur which account for more than 80% of UM cases. The PI3K/Akt/mTOR pathway promotes cyclin D1 overexpression and MDM2 upregulation, leading to p53 pathway inhibition. GNAQ/GNA11 mutations activate YAP via the Trio-RhoGTPase/RhoA/Rac1 signaling circuit in the Hippo-YAP pathway. Rb pathway dysregulation results from cyclin D1 overexpression or cyclin-dependent kinase inhibitor (CDKI) inactivation. In the p53 pathway, UM is characterized by p53 mutations, MDM2 overexpression, and Bcl-2 deregulation. Eventually, the ARF-MDM2 axis serves as a critical link between the RAS and p53 pathways. Hallmarks of cancer, such as evasion of growth suppression and self-sufficiency in growth signals, are also evident in UM. Genetic and epigenetic alterations, including NSB1, MDM2 and CCND1 amplification, and BAP1 mutations, play pivotal roles in UM pathobiology. Thus, UM exhibits a multifactorial pathology. By consolidating key mechanisms underlying UM pathogenesis, this review provides a comprehensive perspective on the involved pathways, offering insights that may facilitate the development of effective therapeutic strategies.

Majid Banimohammad ... Hamidreza Pazoki-Toroudi

Published: April 02, 2025 Explor Target Antitumor Ther. 2025;6:1002306
DOI: https://doi.org/10.37349/etat.2025.1002306

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The purpose of this review was to provide a comprehensive review of the latest insights on the pathogenesis of uveal melanoma (UM) and its intracellular pathways. This article covers the epidemiology of UM, racial predispositions, cytogenetic and chromosomal alterations, gene mutations, key defective pathways, and their underlying mechanisms, as well as the application of hallmarks of cancer to UM. A key knowledge gap remains in identifying the most effective targeted therapy and determining the central pathway linking multiple signaling networks. UM is a malignant tumor arising from uveal melanocytes, predominantly affecting the choroid, with both genetic and epigenetic contributors. Key cytogenetic alterations include monosomy 3, chromosome 6p gain, chromosome 1p loss, and chromosome 8q gain. The most important UM-related signaling pathways are RAS/MAPK, PI3K/Akt/mTOR, Hippo-YAP, retinoblastoma (Rb), and p53 pathways. In the RAS/MAPK pathway, GNAQ/GNA11 mutations occur which account for more than 80% of UM cases. The PI3K/Akt/mTOR pathway promotes cyclin D1 overexpression and MDM2 upregulation, leading to p53 pathway inhibition. GNAQ/GNA11 mutations activate YAP via the Trio-RhoGTPase/RhoA/Rac1 signaling circuit in the Hippo-YAP pathway. Rb pathway dysregulation results from cyclin D1 overexpression or cyclin-dependent kinase inhibitor (CDKI) inactivation. In the p53 pathway, UM is characterized by p53 mutations, MDM2 overexpression, and Bcl-2 deregulation. Eventually, the ARF-MDM2 axis serves as a critical link between the RAS and p53 pathways. Hallmarks of cancer, such as evasion of growth suppression and self-sufficiency in growth signals, are also evident in UM. Genetic and epigenetic alterations, including NSB1, MDM2 and CCND1 amplification, and BAP1 mutations, play pivotal roles in UM pathobiology. Thus, UM exhibits a multifactorial pathology. By consolidating key mechanisms underlying UM pathogenesis, this review provides a comprehensive perspective on the involved pathways, offering insights that may facilitate the development of effective therapeutic strategies.

Open Access

Editorial

Predictive and prognostic biomarkers in cancer: towards the precision medicine era

Stefano Marletta ... Luca Falzone

Published: November 20, 2024 Explor Target Antitumor Ther. 2024;5:1321–1325
DOI: https://doi.org/10.37349/etat.2024.00278

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Times Cited: 4

Guest Editors

About the Special Issue

Call for Papers

Published Articles

Aim:

Methods:

Results:

Conclusions:

Aim:

Methods:

Results:

Conclusions: