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Advances in Molecular Pathology and Imaging for Precision Diagnosis and...
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Advances in Molecular Pathology and Imaging for Precision Diagnosis and Treatment of Tumors

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 28 February 2026 | Viewed by 2760

Special Issue Editor

Dr. Maurizio Martini

E-Mail Website
Guest Editor
Department of Human Pathology of Adults and Developmental Age “Gaetano Barresi,” Division of Pathology, University of Messina, 98125 Messina, Italy
Interests: hematopathology; glial and central nervous system cancer; gastrointestinal tumor; lung cancer; thyroid cancer; genitourinary cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The Special Issue focuses on the latest developments in molecular pathology and imaging technologies and their application in precision oncology. Modern cancer diagnosis and treatment planning increasingly rely on a multi-faceted approach that integrates traditional histopathology with a deeper understanding of molecular biomarkers and advanced imaging techniques. This approach allows for a more detailed classification of tumors and the development of personalized treatment strategies. The Special Issue aims to bring together cutting-edge research on new methods for tumor classification, predictive biomarker evaluation, and the use of digital pathology and artificial intelligence in cancer diagnosis and treatment. We invite submissions on a wide range of topics, including the use of multi-omics data, advanced imaging modalities, and the intersection of these technologies to improve diagnostic accuracy, predict treatment response, and monitor disease progression.

Dr. Maurizio Martini
Guest Editor

Gabriele Ricciardi
Guest Editor Assistant

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • molecular pathology
  • molecular imaging
  • precision oncology
  • biomarkers
  • digital pathology
  • artificial intelligence

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Published Papers (5 papers)

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Review

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15 pages, 476 KB  
Review
The Value of Circulating Tumor HPV DNA in Head and Neck Squamous Cell Cancer: A Review
by Rüveyda Dok, Sandra Nuyts, Fernando Lopez, Carol Bradford, Arlene A. Forastiere, Primož Strojan, Abbas Agaimy, Göran Stenman, Fernanda V. Mariano, Ilmo Leivo, Karthik N. Rao, Michelle Williams, Avraham Eisbruch, Nabil F. Saba and Alfio Ferlito
Diagnostics 2025, 15(21), 2708; https://doi.org/10.3390/diagnostics15212708 - 26 Oct 2025
Viewed by 307
Abstract
Human papillomavirus (HPV)-related oropharyngeal squamous cell carcinomas (OPSCC) represent a distinct subgroup of head and neck squamous cell carcinoma (HNSCC) characterized by better prognosis and increased radiosensitivity compared to HPV-negative OPSCC. However, current diagnostic and monitoring methods, including tissue biopsies and imaging, are [...] Read more.
Human papillomavirus (HPV)-related oropharyngeal squamous cell carcinomas (OPSCC) represent a distinct subgroup of head and neck squamous cell carcinoma (HNSCC) characterized by better prognosis and increased radiosensitivity compared to HPV-negative OPSCC. However, current diagnostic and monitoring methods, including tissue biopsies and imaging, are insufficient for precise risk stratification and early detection of recurrence, leading to challenges in treatment de-escalation and surveillance strategies. Circulating tumor HPV DNA (ctHPV-DNA) has emerged as a promising minimally invasive biomarker that offers tumor-specific detection and monitoring capabilities, potentially transforming the management of HPV-related OPSCC through early disease detection, treatment response assessment, recurrence surveillance stratification, and disease monitoring. Despite encouraging results from early clinical studies, current use is limited to trial settings. Large-scale prospective studies are needed to validate its clinical utility and determine whether early ctHPV-DNA testing can improve patient outcome while reducing treatment related morbidity. This review outlines the biological rationale, technological approaches, and current clinical evidence for ctHPV-DNA in HPV-related OPSCC, emphasizing its potential role in treatment monitoring and surveillance. Full article
(This article belongs to the Special Issue Advances in Molecular Pathology and Imaging for Precision Diagnosis and Treatment of Tumors)
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22 pages, 384 KB  
Review
Molecular Diagnostics and Personalized Therapeutics in Differentiated Thyroid Carcinoma: A Clinically Oriented Review
by Andrés Coca-Pelaz, Juan Pablo Rodrigo, Mark Zafereo, Iain Nixon, Pia Pace-Asciak, Gregory W. Randolph, Carlos Suárez and Alfio Ferlito
Diagnostics 2025, 15(19), 2493; https://doi.org/10.3390/diagnostics15192493 - 30 Sep 2025
Viewed by 822
Abstract
Differentiated thyroid carcinoma (DTC) is the most common endocrine malignancy and typically has a favorable prognosis. However, a subset of patients experience aggressive disease, recurrence, or treatment resistance, underscoring the need for more precise diagnostic and therapeutic strategies. Advances in molecular profiling have [...] Read more.
Differentiated thyroid carcinoma (DTC) is the most common endocrine malignancy and typically has a favorable prognosis. However, a subset of patients experience aggressive disease, recurrence, or treatment resistance, underscoring the need for more precise diagnostic and therapeutic strategies. Advances in molecular profiling have improved the management of thyroid cancer by enabling risk-adapted treatment and targeted interventions. This narrative review offers a clinically focused synthesis of the current role of molecular diagnostics and personalized therapeutics in DTC. We examine key genetic alterations and their diagnostic, prognostic, and therapeutic implications, and discuss how molecular markers enhance traditional risk stratification systems, informing surgical decisions, radioactive iodine (RAI) use, and surveillance. The growing role of targeted therapies, such as tyrosine kinase inhibitors and agents against specific oncogenic drivers, is reviewed, particularly for RAI-refractory DTC. We also address real-world challenges in implementing precision medicine, including access, cost, and standardization. Future directions, such as liquid biopsy, artificial intelligence, and multi-omic integration, are explored as tools to achieve fully personalized care. This review aims to bridge the gap between molecular discovery and clinical application, offering practical insights for endocrinologists, surgeons, oncologists, and multidisciplinary teams managing DTC. Full article
(This article belongs to the Special Issue Advances in Molecular Pathology and Imaging for Precision Diagnosis and Treatment of Tumors)

Other

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25 pages, 1537 KB  
Systematic Review
Bayesian Monte Carlo Simulation Based on Systematic Review for Personalized Risk Stratification of Contralateral Lymph Node Metastasis in Oral Squamous Cell Carcinoma
by Karthik N. Rao, M. P. Sreeram, Prajwal Dange, Andres Coca Pelaz, Cesare Piazza, Remco de Bree, Fernando Lopez, Orlando Guntinas-Lichius, Luiz Paulo Kowalski, Kevin T. Robbins, Primož Strojan, Carlos Suárez, Akihiro Homma, Robert Takes, Juan Pablo Rodrigo, Marc Hamoir, Avraham Eisbruch, Francisco Civantos, Anna Luíza Damaceno Araújo, Alessandra Rinaldo, Małgorzata Wierzbicka and Alfio Ferlitoadd Show full author list remove Hide full author list
Diagnostics 2025, 15(21), 2668; https://doi.org/10.3390/diagnostics15212668 - 22 Oct 2025
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Abstract
Background: Contralateral lymph node metastasis (CLNM) in oral squamous cell carcinoma (OSCC) represents a major clinical challenge, in patients with a clinically contralateral node-negative neck. Individualized risk stratification is crucial to guide decisions on elective contralateral neck dissection. This study aimed to [...] Read more.
Background: Contralateral lymph node metastasis (CLNM) in oral squamous cell carcinoma (OSCC) represents a major clinical challenge, in patients with a clinically contralateral node-negative neck. Individualized risk stratification is crucial to guide decisions on elective contralateral neck dissection. This study aimed to synthesize existing evidence and apply Bayesian Monte Carlo Simulation (MCS) to estimate CLNM probability across various clinic-pathological scenarios. Methods: A systematic search of PubMed, PubMed Central, and Embase (2000–2024) identified 26 eligible studies. Effect sizes for seven key risk factors—midline-crossing tumours, extranodal extension (ENE), ≥2 ipsilateral lymph nodes, depth of invasion (DOI) >10 mm, perineural invasion and lymphovascular invasion (PNI-LVI), poor differentiation, and floor of mouth subsite—were computed and incorporated into a Bayesian logistic model. Using the No-U-Turn Sampler (NUTS) in RStan, 100,000 virtual patient profiles were simulated to generate posterior probabilities of CLNM. Results: The baseline CLNM risk for lateralized tumours without additional risk factors was 4.2%. Single risk factors increased probability substantially: midline-crossing tumours (31.7%), ENE (27.4%), and ≥2 ipsilateral nodes (24.9%). Combinations of risk factors amplified the risk non-linearly: the presence of a midline-crossing tumour, ENE, and ≥2 ipsilateral nodes yielded a 76.8% CLNM probability, and the presence of all seven risk factors increased it to 93.7%. Risk tiers were classified from minimal (<20%) to very high (>50%) to guide clinical decision-making. Conclusions: This MCS-based model reveals that CLNM risk increases multiplicatively with the presence of various high-risk features. The simulation supports bilateral neck management in high-risk patients and observation in low-risk cases. Prospective validation is needed to integrate this model into routine clinical practice and to guide patient-specific surgical planning. Full article
(This article belongs to the Special Issue Advances in Molecular Pathology and Imaging for Precision Diagnosis and Treatment of Tumors)
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23 pages, 3084 KB  
Systematic Review
Patterns of Lateral Lymph Node Involvement by Neck Level in cNIb Differentiated Thyroid Carcinoma: A Systematic Review and Meta-Analysis
by Dana M. Hartl, Karthik N. Rao, Andrés Coca Pelaz, Alessandra Rinaldo, Mark E. Zafereo, Greg W. Randolph, Iain J. Nixon, Marc Hamoir, K. Thomas Robbins, Luiz P. Kowalski, Pia Pace Asciak, Badr Soudi, Juan P. Rodrigo and Alfio Ferlito
Diagnostics 2025, 15(20), 2613; https://doi.org/10.3390/diagnostics15202613 - 16 Oct 2025
Viewed by 505
Abstract
Background/Objectives: The optimal extent of lateral lymph node dissection in cN1b differentiated thyroid cancer remains controversial. This systematic review aimed to assess the frequency of lymph node involvement across neck levels I to V. Materials and Methods: A systematic review was conducted following [...] Read more.
Background/Objectives: The optimal extent of lateral lymph node dissection in cN1b differentiated thyroid cancer remains controversial. This systematic review aimed to assess the frequency of lymph node involvement across neck levels I to V. Materials and Methods: A systematic review was conducted following PRISMA guidelines. PubMed was searched for studies on lateral neck dissection in differentiated thyroid cancer. Included studies reported level-specified metastatic rates. Data on patient numbers and metastatic events were extracted. A random-effects meta-analysis with Freeman–Tukey double arcsine transformation was performed for each neck level to calculate pooled prevalence proportions and 95% confidence intervals. Heterogeneity was assessed using the I2 statistic. Results: Meta-analysis of 57 studies revealed that level III (68%, 95% CI: 63–73) and level IV (66%, 95% CI: 61–70) had the highest metastatic prevalence, followed by level IIA (46%, 95% CI: 37–56). Level V demonstrated an overall prevalence of 22% (95% CI: 18–26), with sublevel VB (19%, 95% CI: 11–28) significantly higher than VA (4%, 95% CI: 1–9). Level I (6%, 95% CI: 2–11) and sublevel IIB (14%, 95% CI: 9–20) showed the lowest risk. Significant heterogeneity (I2 71–94%) was observed across all levels. Conclusions: Our findings support sparing level I, and sublevels IIB and VA during lateral neck dissection. Current guidelines recommend systematic dissection of IIA, III, IV, and VB, although VB involvement was found to be only 19% in our study. Future personalization of the extent of neck dissection, based on individual risk factors, may be key to optimizing oncologic and functional outcomes. Full article
(This article belongs to the Special Issue Advances in Molecular Pathology and Imaging for Precision Diagnosis and Treatment of Tumors)
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17 pages, 2174 KB  
Case Report
Fourth Ventricle Epidermoid Cyst: Case Report of Precision Telovelar Microsurgery, Functional Preservation, and Lifelong Surveillance
by Daniel Costea, Nicolaie Dobrin, Catalina-Ioana Tataru, Corneliu Toader, Răzvan-Adrian Covache-Busuioc, Matei Șerban, Octavian Munteanu and Ionut Bogdan Diaconescu
Diagnostics 2025, 15(20), 2600; https://doi.org/10.3390/diagnostics15202600 - 15 Oct 2025
Viewed by 345
Abstract
Background and Clinical Significance: Fourth ventricular epidermoid cysts are among the least frequently encountered intracranial tumors (less than 1%). Their slow growth pattern along cisternal and subarachnoid spaces, and their close proximity to neurovascular structures (brainstem–cerebellar), create difficulty for surgical treatment. Total [...] Read more.
Background and Clinical Significance: Fourth ventricular epidermoid cysts are among the least frequently encountered intracranial tumors (less than 1%). Their slow growth pattern along cisternal and subarachnoid spaces, and their close proximity to neurovascular structures (brainstem–cerebellar), create difficulty for surgical treatment. Total removal is often complicated by the capsule’s adherence to eloquent structures and requires a thoughtful surgical approach of weighing radical resection versus neurologic/function preservation. This case description provides an example of using careful clinical–radiological correlation and anatomy-dissecting microsurgery as a method of permanent decompression and neurologic recovery with low operative risk. Case Presentation: A 57-year-old female presented with impaired stability of gait, gaze-evoked nystagmus, appendicular ataxia, minimal ipsilateral hypotonia, and mild bulbar dyscoordination. Imaging (MRI, MRA) revealed a large, lobulated mass that was lobulated and avascular centered in the left cerebellar hemisphere, with an extension into the vermis and cisterna magna, and partial filling of the fourth ventricle with classic epidermoid imaging. Resection was performed via a midline suboccipital telovelar approach with microsurgery, relying on native arachnoid planes and quadrant opportunities of decompression, while preserving critical neurovascular structures. A thin rim of capsule intimately adherent to the floor of the ventricle was intentionally left to minimize irreversible cranial nerve injury. Histology showed keratinizing stratified squamous epithelium with laminated keratin and cholesterol clefts. Following resection, truncal stability, limb coordination, and ocular pursuit improved without additional deficits. Initial and 3-month postoperative MRI showed total decompression, re-established CSF pathways, and no recurrence. Conclusions: This case demonstrates that maximal safe resection (with function preservation) through natural anatomy corridors can achieve excellent neurologic results in fourth ventricular epidermoids. Lifelong MRI surveillance will be needed due to the srisk of delayed recurrence even after near-total resection. Full article
(This article belongs to the Special Issue Advances in Molecular Pathology and Imaging for Precision Diagnosis and Treatment of Tumors)
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