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Diagnostics
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Diagnostic, Prognostic and Predictive Biomarkers in Solid Tumors
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Diagnostic, Prognostic and Predictive Biomarkers in Solid Tumors

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

Deadline for manuscript submissions: closed (30 November 2023) | Viewed by 6913

Special Issue Editors

Dr. Anello Marcello Poma

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Guest Editor
Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, 56126 Pisa, Italy
Interests: gene expression; cancer research; biostatistics; diabetes; virus; pathogenesis; tumor biology; thyroid cancer; mesothelioma
Special Issues, Collections and Topics in MDPI journals
Dr. Rossella Bruno

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Guest Editor
Unit of Pathological Anatomy, University Hospital of Pisa, Via Roma 67, 56126 Pisa, Italy
Interests: molecular pathology; lung cancer; mesothelioma; precision medicine; predictive biomarkers; molecular tests; next-generation sequencing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Molecular and clinical biomarkers are fundamental for the management of patients with solid tumors. Early diagnosis and pathological assessment rely on the use of serum and tissue biomarkers. In addition, precision medicine is built on tumor-specific or agnostic biomarkers, which are predictive of response to immuno- and targeted therapies. Thus, biomarkers have been contributing to the dramatically improved life quality and increased overall survival of cancer patients.

Nowadays, due to the development of “omics”, the number of biomarkers introduced in clinics is continuously increasing.

This Special Issue focuses on the discovery and validation of biomarkers in solid tumors, which could help in resolving the diagnostic pitfalls, in stratifying patients according to different prognosis, and in supporting treatment decisions. Studies on biomarker testing methodologies, implementation of clinical algorithms and relevant analytical issues will be also considered. Original Articles, Reviews and Metanalyses are welcomed.

We look forward to receiving your contributions.

Dr. Anello Marcello Poma
Dr. Rossella Bruno
Guest Editors

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

  • biomarkers
  • diagnosis
  • prognosis
  • precision medicine
  • solid tumors
  • next generation sequencing

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Published Papers (3 papers)

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Research

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15 pages, 739 KiB  
Article
Diagnostics of IDH1/2 Mutations in Intracranial Chondroid Tumors: Comparison of Molecular Genetic Methods and Immunohistochemistry
by Vyacheslav Varachev, Anastasia Shekhtman, Dmitrii Guskov, Dmitrii Rogozhin, Alexander Zasedatelev and Tatiana Nasedkina
Diagnostics 2024, 14(2), 200; https://doi.org/10.3390/diagnostics14020200 - 16 Jan 2024
Viewed by 1709
Abstract
Intracranial chondroid tumors are a heterogeneous group of neoplasms characterized by the presence of a cartilage matrix. These tumors exhibit overlapping clinical and histological features. Mutations in IDH1/2 genes serve as important diagnostic markers of tumor type, particularly chondrosarcoma. To improve the accuracy [...] Read more.
Intracranial chondroid tumors are a heterogeneous group of neoplasms characterized by the presence of a cartilage matrix. These tumors exhibit overlapping clinical and histological features. Mutations in IDH1/2 genes serve as important diagnostic markers of tumor type, particularly chondrosarcoma. To improve the accuracy of IDH1/2 diagnostics, we compared three methods: biochip assay, real-time PCR with DNA melting analysis using TaqMan probes and sequencing (qPCR-DMA-Sanger), and immunohistochemistry (IHC). Tumor samples from 96 patients were investigated. The IDH1 mutations were detected in 34/64 (53%) chondrosarcomas; IHC detected 27/56 (48.2%) mutations, the qPCR-DMA-Sanger method 27/59 (46%) mutations, and the biochip assay revealed 29/60 (48.3%) mutations. The detection of IDH1 mutations in chordoma (2/15) and osteosarcoma (2/7) suggested the need for a revised diagnosis. In benign tumors, IDH1 mutations were present in chondroma (4/6), but absent in chondromyxoid fibroma (0/4). The most frequent IDH1 mutations were R132C (60%), R132L, and R132G (13.5% each), R132H (8%), and R132S (5%). The concordance between the biochip assay and IHC was 90%, between IHC and PCR-DMA-Sanger 83%, and between biochip assay and qPCR-DMA-Sanger was 98%, respectively. No IDH2 mutations were found. The use of independent diagnostic methods may improve the detection of IDH-mutant specimens in chondroid tumors. Full article
(This article belongs to the Special Issue Diagnostic, Prognostic and Predictive Biomarkers in Solid Tumors)
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10 pages, 743 KiB  
Article
Feasibility of Comprehensive Genomic Profiling (CGP) in Real-Life Clinical Practice
by Lorenzo Nibid, Giovanna Sabarese, Daniela Righi, Silvia Maria Rossi, Giorgia Merlini, Pierfilippo Crucitti, Bruno Vincenzi, Giuseppe Tonini and Giuseppe Perrone
Diagnostics 2023, 13(4), 782; https://doi.org/10.3390/diagnostics13040782 - 19 Feb 2023
Cited by 5 | Viewed by 2354
Abstract
In advanced or metastatic settings, Comprehensive Genomic Profiling (CGP) allows the evaluation of thousands of gene alterations with the goal of offering new opportunities for personalized treatment in solid tumors. This study evaluated the CGP Success Rate in a real-life cohort of 184 [...] Read more.
In advanced or metastatic settings, Comprehensive Genomic Profiling (CGP) allows the evaluation of thousands of gene alterations with the goal of offering new opportunities for personalized treatment in solid tumors. This study evaluated the CGP Success Rate in a real-life cohort of 184 patients enrolled in a prospective clinical trial. CGP data were compared with the routine molecular testing strategy adopted in-house. Sample age, tumor area, and the percentage of tumor nuclei were recorded for CGP analysis. We found that 150/184 (81.5%) samples resulted in satisfying CGP reports. The CGP Success Rate was higher in samples from surgical specimens (96.7%) and in specimens that had been stored (sample age) for less than six months (89.4%). Among the inconclusive CGP reports, 7/34 (20.6%) were optimal samples, according to CGP sample requirements. Moreover, with the in-house molecular testing approach, we could obtain clinically relevant molecular data in 25/34 (73.5%) samples that had inconclusive CGP reports. In conclusion, despite the fact that CGP offers specific therapeutical options in selected patients, our data suggest that the standard molecular testing strategy should not be replaced in routine molecular profiling. Full article
(This article belongs to the Special Issue Diagnostic, Prognostic and Predictive Biomarkers in Solid Tumors)
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Review

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20 pages, 648 KiB  
Review
An Overview of Circulating Biomarkers in Neuroendocrine Neoplasms: A Clinical Guide
by Michele Bevere, Francesca Masetto, Maria Elena Carazzolo, Alice Bettega, Anastasios Gkountakos, Aldo Scarpa and Michele Simbolo
Diagnostics 2023, 13(17), 2820; https://doi.org/10.3390/diagnostics13172820 - 31 Aug 2023
Cited by 12 | Viewed by 2208
Abstract
Neuroendocrine neoplasms (NENs) are a heterogeneous group of diseases that are characterized by different behavior and clinical manifestations. The diagnosis and management of this group of tumors are challenging due to tumor complexity and lack of precise and widely validated biomarkers. Indeed, the [...] Read more.
Neuroendocrine neoplasms (NENs) are a heterogeneous group of diseases that are characterized by different behavior and clinical manifestations. The diagnosis and management of this group of tumors are challenging due to tumor complexity and lack of precise and widely validated biomarkers. Indeed, the current circulating mono-analyte biomarkers (such as chromogranin A) are ineffective in describing such complex tumors due to their poor sensitivity and specificity. In contrast, multi-analytical circulating biomarkers (including NETest) are emerging as more effective tools to determine the real-time profile of the disease, both in terms of accurate diagnosis and effective treatment. In this review, we will analyze the capabilities and limitations of different circulating biomarkers focusing on three relevant questions: (1) accurate and early diagnosis; (2) monitoring of disease progression and response to therapy; and (3) detection of early relapse. Full article
(This article belongs to the Special Issue Diagnostic, Prognostic and Predictive Biomarkers in Solid Tumors)
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