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Molecular Pathology, Genetics and Genomics in Surgical Pathology
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Molecular Pathology, Genetics and Genomics in Surgical Pathology

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (5 December 2022) | Viewed by 6052

Special Issue Editor

Prof. Dr. David Creytens

E-Mail Website
Guest Editor
Department of Pathology, Ghent University Hospital, 9000 Ghent, Belgium
Interests: surgical pathology; molecular pathology; genetics; immunohistochemistry; diagnostic and predictive biomarkers; soft tissue and bone tumors; sarcoma
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The importance and use of molecular pathology, genetics and genomics in surgical pathology have expanded greatly over the past few years and have led to the identification of new genetic alterations and therefore to a better understanding of the tumorigenesis, detection and classification of solid tumors. Moreover, molecular pathology also plays an important role in the prognosis and identification of targets that can be used for targeted therapy in solid tumors. In this Special Issue, we welcome reviews, original articles, and short reports that cover different diagnostic, therapeutic predictive and/or prognostic aspects of molecular pathology, genetics and genomics in surgical pathology.

Prof. Dr. David Creytens
Guest Editor

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. Genes is an international peer-reviewed open access monthly 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
  • genetics
  • genomics
  • solid tumors
  • surgical pathology
  • diagnostics
  • diagnostic biomarkers
  • predictive biomarkers
  • prognostic biomarkers

Published Papers (3 papers)

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Review

16 pages, 9800 KiB  
Review
Spitz Melanocytic Tumors: A Fascinating 75-Year Journey
by Kyriakos Chatzopoulos, Antonia Syrnioti and Konstantinos Linos
Genes 2024, 15(2), 195; https://doi.org/10.3390/genes15020195 - 31 Jan 2024
Viewed by 1942
Abstract
Over the last 75 years, our understanding of Spitz lesions has undergone substantial evolution. Initially considered a specific type of melanoma, the perception has shifted towards recognizing Spitz lesions as a spectrum comprising Spitz nevi, Spitz melanocytomas, and Spitz melanomas. Spitz lesions are [...] Read more.
Over the last 75 years, our understanding of Spitz lesions has undergone substantial evolution. Initially considered a specific type of melanoma, the perception has shifted towards recognizing Spitz lesions as a spectrum comprising Spitz nevi, Spitz melanocytomas, and Spitz melanomas. Spitz lesions are known for posing a significant diagnostic challenge regarding the distinction between benign neoplasms displaying atypical traits and melanomas. A comprehensive understanding of their molecular basis and genomic aberrations has significantly improved precision in classifying and diagnosing these challenging lesions. The primary aim of this review is to encapsulate the current understanding of the molecular pathogenesis and distinct clinicopathologic characteristics defining this intriguing set of tumors. Full article
(This article belongs to the Special Issue Molecular Pathology, Genetics and Genomics in Surgical Pathology)
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16 pages, 12579 KiB  
Review
Soft Tissue and Bone Tumor Diagnostics: Harnessing the Power of Molecular Techniques
by Fleur Cordier, Liesbeth Ferdinande, Anne Hoorens, Koen Van de Vijver, Jo Van Dorpe and David Creytens
Genes 2023, 14(12), 2229; https://doi.org/10.3390/genes14122229 - 17 Dec 2023
Viewed by 1140
Abstract
Since the introduction of new molecular techniques, the diagnostic landscape of soft tissue and bone tumors has expanded greatly over the past few years. The use of new molecular techniques has led to the identification of new genetic alterations and, therefore, to a [...] Read more.
Since the introduction of new molecular techniques, the diagnostic landscape of soft tissue and bone tumors has expanded greatly over the past few years. The use of new molecular techniques has led to the identification of new genetic alterations and, therefore, to a better understanding of tumorigenesis, tumor detection and classification. Furthermore, methylation profiling has emerged as a classification tool for soft tissue and bone tumors. Molecular pathology also plays an important role in the determination of patient prognosis and in the identification of targets that can be used for targeted therapy. As a result, molecular pathology has gained a more prominent role in the daily practice of the surgical pathologist. This review delves into various molecular techniques applied in the surgical pathology of soft tissue and bone tumors. It highlights their applications through the analysis of five specific cases. Full article
(This article belongs to the Special Issue Molecular Pathology, Genetics and Genomics in Surgical Pathology)
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16 pages, 683 KiB  
Review
Update on Molecular Diagnostics in Thyroid Pathology: A Review
by Bayan Alzumaili and Peter M. Sadow
Genes 2023, 14(7), 1314; https://doi.org/10.3390/genes14071314 - 22 Jun 2023
Cited by 4 | Viewed by 2557
Abstract
Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation. For those nodules that raise clinical concern of neoplasia, fine needle aspiration biopsy is the gold standard for [...] Read more.
Thyroid nodules are quite common, and the determination of a nodule of concern is complex, involving serum testing, radiology and, in some cases, pathological evaluation. For those nodules that raise clinical concern of neoplasia, fine needle aspiration biopsy is the gold standard for evaluation; however, in up to 30% of cases, results are indeterminate for malignancy, and further testing is needed. Advances in molecular testing have shown it to be of benefit for both diagnostic and prognostic purposes, and its use has become an integral part of thyroid cancer management in the United States and in several global nations. After The Cancer Genome Atlas (TCGA) consortium published its molecular landscape of papillary thyroid carcinoma (PTC) and reduced the “black matter” in PTC from 25% to 3.5%, further work ensued to clarify the remaining fraction not neatly attributed to the BRAFV600E-like or RAS-like phenotypes of the TCGA. Over the past decade, commercial molecular platforms have been refined as data accrues, and they increasingly cover most genetic variants of thyroid carcinomas. Molecular reporting focuses on the nodule tested, including related clinical information for that nodule (size of nodule, Bethesda category, etc.). This results in a comprehensive report to physicians that may also include patient-directed, clear language that facilitates conversations about nodule management. In cases of advanced or recurrent disease, molecular testing may become essential for devising an individual therapeutic plan. In this review, we focus on the evolution of integrated molecular testing in thyroid nodules, and how our understanding of tumor genetics, combined with histopathology, is driving the next generation of rational patient management, particularly in the context of emerging small, targetable therapeutics. Full article
(This article belongs to the Special Issue Molecular Pathology, Genetics and Genomics in Surgical Pathology)
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