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Diagnostics
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Molecular Diagnostics of Brain Tumours
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Molecular Diagnostics of Brain 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 (28 February 2022) | Viewed by 7474

Special Issue Editors

Dr. Marta Mellai

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Guest Editor
1. Department of Health Sciences, Università del Piemonte Orientale “A. Avogadro”, Via Solaroli 17, 28100 Novara, Italy
2. Center for Autoimmune and Allergic Disease (CADD), Corso Trieste 15A, 28100 Novara, Italy
Interests: brain tumors; molecular genetics of solid tumors; cancer research; stem cells
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Renzo Boldorini

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Guest Editor
Department of Health Sciences, Universitá degli Studi del Piemonte Orientale "A. Avogadro", Via Solaroli 17, Novara, Italy
Interests: pathology; molecular pathology; cytopathology; biomarkers of clinical interest in malignant pleural mesothelioma, colorectal carcinoma, lung cancer, malignant melanoma, thyroid tumours; viral carcinogenesis (polyomavirus and papillomavirus)

Special Issue Information

Dear Colleagues,

The World Health Organization (WHO) classification system of central nervous system (CNS) tumors was revised in 2021, according to an integrated diagnosis based on morphology and molecular genetics.

Meningiomas are the most frequent primary brain tumors in adults. Atypical and anaplastic meningiomas need to be further investigated in order to improve the current clinical management and provide optional therapeutic strategies (including immunotherapy).

This Special Issue focuses on the molecular mechanisms involved in the origin and progression of meningiomas, in order to refine the existing algorithms in the neuropathologic diagnosis and for an appropriate management in neuro-oncological practice. This Issue aims: (i) to investigate advanced surgical and imaging techniques (including magnetic resonance and positron emission tomography); (ii) to identify new molecular biomarkers with diagnostic and prognostic relevance; and iii) to introduce new potential therapeutic options.

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 the pathogenetic mechanisms, conveying potentially useful insights to achieve original diagnostic and therapeutic approaches.

Potential topics include but are not limited to the following:

  • Molecular pathogenesis of meningioma;
  • Atypical and anaplastic meningioma: clinical management and treatment;
  • Molecular biomarkers with translational relevance;
  • Advanced imaging techniques;
  • Optional therapeutics.

Dr. Marta Mellai
Prof. Dr. Renzo Boldorini
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

  • Atypical and anaplastic meningioma
  • Molecular pathogenesis
  • Biomarkers
  • Imaging techniques
  • Therapeutics

Published Papers (3 papers)

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Research

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14 pages, 2556 KiB  
Article
Combining FORGE Score and Histopathological Diagnostic Criteria of Atypical Meningioma Enables Risk Stratification of Tumor Progression
by Johannes Wach, Tim Lampmann, Ági Güresir, Hartmut Vatter, Albert J. Becker, Michael Hölzel, Marieta Toma and Erdem Güresir
Diagnostics 2021, 11(11), 2011; https://doi.org/10.3390/diagnostics11112011 - 29 Oct 2021
Cited by 4 | Viewed by 1801
Abstract
More than 50% of atypical meningiomas regrow within 5 years after surgery. FORGE score is a newly created tool to estimate the MIB-1 index in cranial meningiomas. In this investigation, we aimed to assess the predictive value of the FORGE score in combination [...] Read more.
More than 50% of atypical meningiomas regrow within 5 years after surgery. FORGE score is a newly created tool to estimate the MIB-1 index in cranial meningiomas. In this investigation, we aimed to assess the predictive value of the FORGE score in combination with major diagnostic criteria of atypical meningioma (brain invasion, mitotic count ≥ 4) regarding recurrence in atypical meningiomas. We included patients operated on primary atypical meningiomas in our center from 2011 to 2019. The study included 71 patients (58% women, median age 63 years). ROC curves revealed a superiority of FORGE score combined with histopathological diagnostic criteria of atypical meningioma (AT-FORGE) in the prediction of tumor progression compared to FORGE score only (AUC: 0.72; 95% CI: 0.54–0.91, cut-off: ≥5/<5, sensitivity: 75%, specificity: 78%). Patients with an AT-FORGE score ≥ 5 had a shorter time to tumor progression (32.8 vs. 71.4 months, p < 0.001) in the univariable analysis. Multivariable cox regression analysis revealed significant predictive value of Simpson grade > II, presence of multiple meningiomas and AT-FORGE score ≥ 5 for tumor progression. The combination of histopathological diagnostic criteria for atypical meningioma with FORGE score might facilitate an effective identification of patients with an atypical meningioma who have an increased risk of tumor progression. Full article
(This article belongs to the Special Issue Molecular Diagnostics of Brain Tumours)
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14 pages, 1637 KiB  
Article
Human TERT Promoter Mutations in Atypical and Anaplastic Meningiomas
by Marta Mellai, Omar Porrini Prandini, Aurora Mustaccia, Valentina Fogazzi, Marta Allesina, Marco Krengli and Renzo Boldorini
Diagnostics 2021, 11(9), 1624; https://doi.org/10.3390/diagnostics11091624 - 06 Sep 2021
Cited by 3 | Viewed by 2108
Abstract
Background: The role of telomerase reverse transcriptase (TERT) gene promoter mutations (pTERT) in atypical and anaplastic meningiomas remains controversial. This study aimed to evaluate their impact on the histologic diagnosis and prognosis in a retrospective series of 74 patients with atypical [...] Read more.
Background: The role of telomerase reverse transcriptase (TERT) gene promoter mutations (pTERT) in atypical and anaplastic meningiomas remains controversial. This study aimed to evaluate their impact on the histologic diagnosis and prognosis in a retrospective series of 74 patients with atypical and anaplastic meningioma, including disease progression and relapse. A supplementary panel of 21 benign tumours was used as a control cohort. Materials and Methods: The mutation rate of the pTERT gene was assessed by Sanger sequencing. ATRX protein expression was detected by immunohistochemistry. The phenotypic and genotypic intra-tumour heterogeneity was studied in a sub-group of 12 cases using a Molecular Machines & Industries (MMI) CellCut laser microdissection (LMD) system. Results: pTERT mutations were detected in 12/74 (17.6%) malignant meningiomas. The mutation rate was significantly higher in anaplastic meningiomas (7/23, 30.4%) compared to atypical tumours (5/48, 10.4%) (p = 0.0443). In contrast, the mutation rate was < 5% in benign tumours. All pTERT mutant cases retained nuclear ATRX immunoreactivity. pTERT mutations were significantly associated with the histologic grade (p = 0.0443) and were adverse prognostic factors for anaplastic tumours (p = 0.06). Conclusion: We reported on the pTERT mutation spectrum in malignant meningiomas, supporting their use in the prognostic classification. Full article
(This article belongs to the Special Issue Molecular Diagnostics of Brain Tumours)
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Review

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12 pages, 305 KiB  
Review
Discovering the Molecular Landscape of Meningioma: The Struggle to Find New Therapeutic Targets
by Ilaria Maggio, Enrico Franceschi, Vincenzo Di Nunno, Lidia Gatto, Alicia Tosoni, Daniele Angelini, Stefania Bartolini, Raffaele Lodi and Alba Ariela Brandes
Diagnostics 2021, 11(10), 1852; https://doi.org/10.3390/diagnostics11101852 - 08 Oct 2021
Cited by 11 | Viewed by 2547
Abstract
Meningiomas are the most common primary CNS tumors. They are usually benign but can present aggressive behavior in about 20% of cases. The genetic landscape of meningioma is characterized by the presence (in about 60% of cases) or absence of NF2 mutation. Low-grade [...] Read more.
Meningiomas are the most common primary CNS tumors. They are usually benign but can present aggressive behavior in about 20% of cases. The genetic landscape of meningioma is characterized by the presence (in about 60% of cases) or absence of NF2 mutation. Low-grade meningiomas can also present other genetic alterations, particularly affecting SMO, TRAF7, KLF4 AKT1 and PI3KCA. In higher grade meningiomas, mutations of TERT promoter and deletion of CDKN2A/B seem to have a prognostic value. Furthermore, other genetic alterations have been identified, such as BAP1, DMD and PBRM1. Different subgroups of DNA methylation appear to be correlated with prognosis. In this review, we explored the genetic landscape of meningiomas and the possible therapeutic implications. Full article
(This article belongs to the Special Issue Molecular Diagnostics of Brain Tumours)
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