Emerging Trends in Tumor Pathology and Precision Oncology

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: 15 September 2025 | Viewed by 3282

Special Issue Editors


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Guest Editor
1. Department of Integrated Surgical and Diagnostic Sciences (DISC), University of Genoa, Genoa, Italy
2. Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Interests: gynecologic pathology; fetal and placental pathology; pediatric pathology; molecular pathology; management
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Interests: neuropathology; nephropathology; pediatric pathology; forensic pathology

Special Issue Information

Dear Colleagues,

The Special Issue on “Emerging Trends in Tumor Pathology and Precision Oncology” focuses on the latest advancements that are transforming tumor pathology, with a particular emphasis on gynecologic pathology, pediatric pathology, and neuropathology as primary fields of interest. Utilizing molecular, digital, and biobanking technologies, this collection explores how these innovations are enhancing the understanding, diagnosis, and treatment of various cancers. Molecular pathology techniques, such as next-generation sequencing, are crucial for identifying genetic mutations, enabling targeted therapeutic strategies that improve patient care. Digital pathology, through tools like whole-slide imaging and AI-driven analysis, offers greater diagnostic accuracy and supports remote consultations. Meanwhile, biobanking serves as a vital resource for translational research, facilitating the development and validation of new biomarkers and treatment modalities. This Special Issue will compile high-quality research papers discussing these technological advancements and their practical implementation challenges. While focusing on gynecologic, pediatric, and neuropathology, the issue also welcomes contributions from other oncologic and pathologic subspecialties. By promoting collaboration among pathologists, researchers, and clinicians, this Special Issue aims to significantly advance tumor pathology and precision oncology, ultimately fostering personalized medicine and improving patient outcomes.

Dr. Valerio Gaetano Vellone
Dr. Gabriele Gaggero
Guest Editors

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Keywords

  • gynecologic pathology
  • pediatric pathology
  • neuropathology
  • molecular diagnostics
  • precision oncology

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Published Papers (2 papers)

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Research

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18 pages, 3846 KiB  
Article
Evaluating HPV Viral Load and Multiple Infections for Enhanced Cervical Cancer Risk-Based Assessment
by Serena Varesano, Giulia Ciccarese, Michele Paudice, Katia Mazzocco, Gabriele Gaggero, Simone Ferrero, Giancarlo Icardi and Valerio Gaetano Vellone
Life 2025, 15(2), 153; https://doi.org/10.3390/life15020153 - 22 Jan 2025
Cited by 1 | Viewed by 1408
Abstract
Human papillomavirus (HPV) is a major cause of cervical cancer, a significant health concern worldwide. Despite advances in screening methods, including the Pap test and the HPV DNA test, limitations remain in accurately predicting which HPV infections will progress to cervical intraepithelial neoplasia [...] Read more.
Human papillomavirus (HPV) is a major cause of cervical cancer, a significant health concern worldwide. Despite advances in screening methods, including the Pap test and the HPV DNA test, limitations remain in accurately predicting which HPV infections will progress to cervical intraepithelial neoplasia (CIN) and, eventually, invasive cancer. This study evaluates the usefulness in real life of assessing HPV viral load and the presence of multiple HPV genotypes in enhancing the diagnostic accuracy of triage in cervical cancer screening. A retrospective analysis was performed on 55 formalin-fixed paraffin-embedded cervical samples collected from women who underwent colposcopy with a biopsy or conization at San Martino Hospital, Genova, Italy, between January and June 2021. Histological diagnoses were compared with molecular analyses (HPV genotyping, viral load quantification and co-infection) using a multiplex real-time PCR platform. Of the samples analyzed, 56.4% were HPV DNA positive, while 40% tested negative. The molecular analysis identified more HPV-negative cases than the histological analysis (p < 0.05). Higher viral loads and HPV co-infections were more frequent in high-grade CIN lesions. These markers may help identify patients at an elevated risk for persistent infections and cancer progression. These findings support the potential of integrating HPV viral load and genotype co-infection assessments into routine cervical cancer screening protocols to improve early detection and reduce overtreatment and unnecessary interventions. Full article
(This article belongs to the Special Issue Emerging Trends in Tumor Pathology and Precision Oncology)
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Review

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14 pages, 464 KiB  
Review
Companion Diagnostics (CDx) Based on Molecular Biology Techniques
by Su Lim Kang, Ji Yean Kwon and Sung Min Kim
Life 2024, 14(11), 1358; https://doi.org/10.3390/life14111358 - 23 Oct 2024
Viewed by 1408
Abstract
Molecular profiling based on genomic mutations provides clinically important diagnostic and prognostic information. Companion diagnostic (CDx) testing, which is based on targeted drug therapy, is being applied to a variety of molecular diagnostic techniques (e.g., fluorescent in situ hybridization—FISH; polymerase chain reaction—PCR; and [...] Read more.
Molecular profiling based on genomic mutations provides clinically important diagnostic and prognostic information. Companion diagnostic (CDx) testing, which is based on targeted drug therapy, is being applied to a variety of molecular diagnostic techniques (e.g., fluorescent in situ hybridization—FISH; polymerase chain reaction—PCR; and next-generation sequencing—NGS) to diagnose complex etiologies using a minimal number of specimens, replacing immunohistochemical analysis, which may show bias at certain stages. The safety and effectiveness of CDx testing using molecular diagnostic technology in precision medicine is an important factor in determining the treatment outcome and prognosis of patients. Meeting minimum safety and effectiveness performance standards is essential for CDx testing, and a thorough understanding of regulatory considerations is necessary to plan and design the optimal product. In this review, we focus on the diagnostic field of precision medicine and discuss the safety and effectiveness that each molecular diagnostic technology must meet according to CDx testing diversity. Full article
(This article belongs to the Special Issue Emerging Trends in Tumor Pathology and Precision Oncology)
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