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Diagnostics
Special Issues
Pathology and Diagnostic Issues in Central Nervous System Tumors
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Pathology and Diagnostic Issues in Central Nervous System Tumors

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

Deadline for manuscript submissions: 30 April 2024 | Viewed by 2237

Special Issue Editors

Dr. Antonio d'Amati

E-Mail Website
Guest Editor
Department of Emergency and Organ Transplantation, Pathology Unit, University of Bari School of Medicine, Bari, Italy
Interests: anatomical pathology; neuropathology; neuroscience; CNS tumors; adult gliomas; pediatric gliomas; neuroinflammation; neurodegenerative diseases; blood-brain barrier; immunohistochemistry; gynecologic pathology; breast pathology; head and neck pathology; oral pathology; oncology; pathology; histology
Dr. Giuseppe Ingravallo

E-Mail Website
Guest Editor
Department of Precision and Regenerative Medicine and Ionian Area, University of Bari Medical School, 70124 Bari, Italy
Interests: lymphoma diagnosis; neoplastic microenvironment; bone marrow pathology; Sjögren syndrome and gastrointestinal carcinogenesis; neuropathology; CNS tumors
Special Issues, Collections and Topics in MDPI journals
Dr. Manila Antonelli

E-Mail Website
Guest Editor
Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Rome, Italy
Interests: neuropathology; CNS tumors; adult gliomas; pediatric gliomas; histopathology; cancer biology; cancer diagnostics; molecular oncology; tumor biology; surgical pathology; cancer biomarkers; immunohistochemistry; pathology; histology

Special Issue Information

Dear Colleagues,

After the publication of the 5th WHO Classification of CNS Tumors, it became clear that the application of molecular biology techniques in pathologists’ diagnostic practice is becoming increasingly fundamental. However, along with the beneficial influence of molecular advances, there are many diagnostic issues regarding the application of molecular tests, the interpretation of results in particular cases, and the classification of proposed new entities.

This Research Topic aims to share new insights regarding pathology and diagnostic issues in CNS tumors. The goal is to discuss new perspectives in terms of classification, diagnosis, prognosis, and possible therapeutic perspectives in CNS tumors.

Dr. Antonio d’Amati
Dr. Giuseppe Ingravallo
Dr. Manila Antonelli
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

  • molecular biology
  • neuropathology
  • CNS
  • CNS tumors
  • gliomas
  • pediatric gliomas
  • glioblastoma
  • oncology
  • diagnostic issues
  • tumor classification
  • pathology
  • diagnosis

Published Papers (1 paper)

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Research

15 pages, 5615 KiB  
Article
NSD1 Mutations and Pediatric High-Grade Gliomas: A Comparative Genomic Study in Primary and Recurrent Tumors
by Antonio d’Amati, Arianna Nicolussi, Evelina Miele, Angela Mastronuzzi, Sabrina Rossi, Francesca Gianno, Francesca Romana Buttarelli, Simone Minasi, Pietro Lodeserto, Marina Paola Gardiman, Elisabetta Viscardi, Anna Coppa, Vittoria Donofrio, Isabella Giovannoni, Felice Giangaspero and Manila Antonelli
Diagnostics 2023, 13(1), 78; https://doi.org/10.3390/diagnostics13010078 - 27 Dec 2022
Cited by 2 | Viewed by 1540
Abstract
Pediatric high-grade gliomas represent a heterogeneous group of tumors with a wide variety of molecular features. We performed whole exome sequencing and methylation profiling on matched primary and recurrent tumors from four pediatric patients with hemispheric high-grade gliomas. Genetic analysis showed the presence [...] Read more.
Pediatric high-grade gliomas represent a heterogeneous group of tumors with a wide variety of molecular features. We performed whole exome sequencing and methylation profiling on matched primary and recurrent tumors from four pediatric patients with hemispheric high-grade gliomas. Genetic analysis showed the presence of some variants shared between primary and recurrent tumors, along with other variants exclusive of primary or recurrent tumors. NSD1 variants, all novel and not previously reported, were present at high frequency in our series (100%) and were all shared between the samples, independently of primary or recurrence. For every variant, in silico prediction tools estimated a high probability of altering protein function. The novel NSD1 variant (c.5924T > A; p.Leu1975His) was present in one in four cases at recurrence, and in two in four cases at primary. The novel NSD1 variant (c.5993T > A; p.Met1998Lys) was present in one in four cases both at primary and recurrence, and in one in four cases only at primary. The presence of NSD1 mutations only at recurrence may suggest that they can be sub-clonal, while the presence in both primary and recurrence implies that they can also represent early and stable events. Furthermore, their presence only in primary, but not in recurrent tumors, suggest that NSD1 mutations may also be influenced by treatment. Full article
(This article belongs to the Special Issue Pathology and Diagnostic Issues in Central Nervous System Tumors)
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