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Diagnostics
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Molecular Diagnostics of CNS Tumours
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Molecular Diagnostics of CNS Tumours

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

Deadline for manuscript submissions: closed (31 March 2020) | Viewed by 16441

Special Issue Editor

Prof. Dr. Renzo Boldorini

E-Mail Website
Guest Editor
1. Department of Health Sciences, Universitá degli Studi del Piemonte Orientale "A. Avogadro", Via Solaroli 17, Novara, Italy
2. Pathology Unit, Maggiore della Carità Hospital, 28100 Novara, Italy
Interests: pathology; molecular pathology; cytopathology; biomarkers of clinical interest in malignant pleural mesothelioma; colorectal carcinoma; lung cancer; malignant melanoma; thyroid tumors; viral carcinogenesis (polyomavirus and papillomavirus)
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagus,

The World Health Organization (WHO) classification system of central nervous system (CNS) tumors was revised in 2016 according to an integrated diagnosis based both on morphology and of molecular genetics. In the last decade, next-generation sequencing led to the discovery of new molecular markers with both diagnostic and prognostic relevance. On the one side, these new findings have improved the current knowledge of the molecular basis of both adult and paediatric brain tumors and, on the other side, they have significantly affected their clinical management. Compelling evidence has demonstrated the critical role played by the molecular pattern of brain tumors on the final clinical outcome. This Special Issue aims to increase the knowledge of molecular biomarkers involved in the origin and progression of brain tumors (or the molecular basis) in order to improve the current diagnostic algorithms for molecular genetic tests in brain tumors in the neuropathological and neuro-oncological practice for an accurate diagnosis and appropriate management. This Special Issue is open to original contributions from experimental and clinical studies, including reports on improved experimental models and innovative therapies. We are particularly interested in articles describing new insights into pathogenetic mechanisms, conveying potentially useful insights to achieve original diagnostic and therapeutic approaches. Potential topics include but are not limited to the following:

  • Low-grade gliomas;
  • Glioblastoma and midline gliomas;
  • Meningiomas;
  • Brain metastases;
  • Paediatric brain tumors.

Prof. Dr. Renzo Boldorini
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. 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

  • glioma
  • central nervous system tumors
  • meningioma
  • molecular biology
  • next-generation sequencing
  • diagnostic biomarkers
  • prognosis

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Published Papers (3 papers)

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Research

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12 pages, 2374 KiB  
Article
Magnetic Resonance Imaging Derived Biomarkers of IDH Mutation Status and Overall Survival in Grade III Astrocytomas
by Paola Feraco, Antonella Bacci, Patrizia Ferrazza, Luc van den Hauwe, Riccardo Pertile, Salvatore Girlando, Mattia Barbareschi, Cesare Gagliardo, Alessio Giuseppe Morganti and Benedetto Petralia
Diagnostics 2020, 10(4), 247; https://doi.org/10.3390/diagnostics10040247 - 23 Apr 2020
Cited by 13 | Viewed by 4014
Abstract
The evaluation of the isocitrate dehydrogenase (IDH) mutation status in the glioma decision-making process has diagnostic, prognostic and therapeutic implications. The aim of this study was to evaluate whether conventional magnetic resonance imaging (MRI) and apparent diffusion coefficient (ADC) can noninvasively predict the [...] Read more.
The evaluation of the isocitrate dehydrogenase (IDH) mutation status in the glioma decision-making process has diagnostic, prognostic and therapeutic implications. The aim of this study was to evaluate whether conventional magnetic resonance imaging (MRI) and apparent diffusion coefficient (ADC) can noninvasively predict the most common IDH mutational status (R132H) in GIII-astrocytomas and the overall survival (OS). Hence, twenty-two patients (9-F, 13-M) with a histological diagnosis of GIII-astrocytoma and evaluation of IDH-mutation status (12-wild type, 10-mutant) were retrospectively evaluated. Imaging studies were reviewed for the morphological feature and mean ADC values (ADCm). Statistics included a Fisher’s exact test, Student’s t-test, Spearman’s Test and receiver operating characteristic analysis. A p ≤ 0.05 value was considered statistically significant for all the tests. A younger age and a frontal location were more likely related to mutational status. IDH-wild type (Wt) exhibited a slight enhancement (p = 0.039). The ADCm values in IDH-mutant (Mut) patients were higher than those of IDH-Wt patients (p < 0.0004). The value of ADC ≥ 0.99 × 10−3 mm2/s emerged as a “cut-off” to differentiate the mutation state. In the overall group, a positive relationship between the ADCm values and OS was detected (p = 0.003; r = 0.62). Adding quantitative measures of ADC values to conventional MR imaging could be used routinely as a noninvasive marker of specific molecular patterns. Full article
(This article belongs to the Special Issue Molecular Diagnostics of CNS Tumours)
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18 pages, 2941 KiB  
Article
Long Term Survival in Patients Suffering from Glio-blastoma Multiforme: A Single-Center Observational Cohort Study
by Daniele Armocida, Alessandro Pesce, Federico Di Giammarco, Alessandro Frati, Antonio Santoro and Maurizio Salvati
Diagnostics 2019, 9(4), 209; https://doi.org/10.3390/diagnostics9040209 - 30 Nov 2019
Cited by 27 | Viewed by 4166
Abstract
Background: Glioblastomas (GBM) are generally burdened, to date, by a dismal prognosis, although long term survivors have a relatively significant incidence. Our specific aim was to determine the exact impact of many surgery-, patient- and tumor-related variables on survival parameters. Methods: The surgical, [...] Read more.
Background: Glioblastomas (GBM) are generally burdened, to date, by a dismal prognosis, although long term survivors have a relatively significant incidence. Our specific aim was to determine the exact impact of many surgery-, patient- and tumor-related variables on survival parameters. Methods: The surgical, radiological and clinical outcomes of patients have been retrospectively reviewed for the present study. All the patients have been operated on in our institution and classified according their overall survival in long term survivors (LTS) and short term survivors (STS). A thorough review of our surgical series was conducted to compare the oncologic results of the patients in regard to: (1) surgical-(2) molecular and (3) treatment-related features. Results: A total of 177 patients were included in the final cohort. Extensive statistical analysis by means of univariate, multivariate and survival analyses disclosed a survival advantage for patients presenting a younger age, a smaller lesion and a better functional status at presentation. From the histochemical point of view, Ki67 (%) was the strongest predictor of better oncologic outcomes. A stepwise analysis of variance outlines the existence of eight prognostic subgroups according to the molecular patterns of Ki67 overexpression and epidermal growth factor receptor (EGFR), p53 and isocitrate dehydrogenase (IDH) mutations. Conclusions: On the grounds of our statistical analyses we can affirm that the following factors were significant predictors of survival advantage: Karnofsky performance status (KPS), age, volume of the lesion, motor disorder at presentation and/or a Ki67 overexpression. In our experience, LTS is associated with a gross total resection (GTR) of tumor correlated with EGFR and p53 mutations with regardless of localization, and poorly correlated to dimension. We suppose that performing a standard molecular analysis (IDH, EGFR, p53 and Ki67) is not sufficient to predict the behavior of a GBM in regards to overall survival (OS), nor to provide a deeper understanding of the meaning of the different genetic alterations in the DNA of cancer cells. A fine molecular profiling is feasible to precisely stratify the prognosis of GBM patients. Full article
(This article belongs to the Special Issue Molecular Diagnostics of CNS Tumours)
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Review

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16 pages, 3211 KiB  
Review
The Additional Value of 18F-FDG PET and MRI in Patients with Glioma: A Review of the Literature from 2015 to 2020
by Natale Quartuccio, Riccardo Laudicella, Antonio Vento, Salvatore Pignata, Maria Vittoria Mattoli, Rossella Filice, Alessio Danilo Comis, Annachiara Arnone, Sergio Baldari, Manlio Cabria and Angelina Cistaro
Diagnostics 2020, 10(6), 357; https://doi.org/10.3390/diagnostics10060357 - 29 May 2020
Cited by 25 | Viewed by 7771
Abstract
Aim: Beyond brain computed tomography (CT) scan, Magnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET) hold paramount importance in neuro-oncology. The aim of this narrative review is to discuss the literature from 2015 to 2020, showing advantages or complementary information of fluorine-18 [...] Read more.
Aim: Beyond brain computed tomography (CT) scan, Magnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET) hold paramount importance in neuro-oncology. The aim of this narrative review is to discuss the literature from 2015 to 2020, showing advantages or complementary information of fluorine-18 fluorodeoxyglucose (18F-FDG) PET imaging to the anatomical and functional data offered by MRI in patients with glioma. Methods: A comprehensive Pubmed/MEDLINE literature search was performed to retrieve original studies, with a minimum of 10 glioma patients, published from 2015 until the end of April 2020, on the use of 18F-FDG PET in conjunction with MRI. Results: Twenty-two articles were selected. Combined use of the two modalities improves the accuracy in predicting prognosis, planning treatments, and evaluating recurrence. Conclusion: According to the recent literature, 18F-FDG PET provides different and complementary information to MRI and may enhance performance in the whole management of gliomas. Therefore, integrated PET/MRI may be particularly useful in gliomas, since it could provide accurate morphological and metabolic information in one-shoot examination and improve the diagnostic value compared to each of procedures. Full article
(This article belongs to the Special Issue Molecular Diagnostics of CNS Tumours)
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