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22 pages, 15438 KiB

Open AccessReview

Rare Neuronal, Glial and Glioneuronal Tumours in Adults

by Nicolas Crainic, Julia Furtner, Johan Pallud, Franck Bielle, Giuseppe Lombardi, Roberta Rudà and Ahmed Idbaih

Cancers 2023, 15(4), 1120; https://doi.org/10.3390/cancers15041120 - 9 Feb 2023

Cited by 6 | Viewed by 4549

Abstract

Rare glial, neuronal and glioneuronal tumours in adults form a heterogeneous group of rare, primary central nervous system tumours. These tumours, with a glial and/or neuronal component, are challenging in terms of diagnosis and therapeutic management. The novel classification of primary brain tumours published by the WHO in 2021 has significantly improved the diagnostic criteria of these entities. Indeed, diagnostic criteria are nowadays multimodal, including histological, immunohistochemical and molecular (i.e., genetic and methylomic). These integrated parameters have allowed the specification of already known tumours but also the identification of novel tumours for a better diagnosis. Full article

(This article belongs to the Special Issue Rare Primary Brain Tumors in Adults)

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15 pages, 4888 KiB

Open AccessCase Report

Diffuse Leptomeningeal Glioneuronal Tumour with 9-Year Follow-Up: Case Report and Review of the Literature

by Milda Sarkinaite, Indre Devyziene, Jurgita Makstiene, Algimantas Matukevicius and Rymante Gleizniene

Diagnostics 2022, 12(2), 342; https://doi.org/10.3390/diagnostics12020342 - 28 Jan 2022

Cited by 10 | Viewed by 5171

Abstract

In 2016, the World Health Organisation Classification (WHO) of Tumours was updated with diffuse leptomeningeal glioneuronal tumour (DLGNT) as a provisional unit of mixed neuronal and glial tumours. Here, we report a DLGNT that has been re-diagnosed with the updated WHO classification, with clinical features, imaging, and histopathological findings and a 9-year follow-up. A 16-year-old girl presented with headache, vomiting, and vertigo. Magnetic resonance imaging (MRI) demonstrated a hyperintense mass with heterogenous enhancement in the right cerebellopontine angle and internal auditory canal. No leptomeningeal involvement was seen. The histological examination revealed neoplastic tissue of moderate cellularity formed mostly by oligodendrocyte-like cells. Follow-up MRI scans demonstrated cystic lesions in the subarachnoid spaces in the brain with vivid leptomeningeal enhancement. Later spread of the tumour was found in the spinal canal. On demand biopsy samples were re-examined, and pathological diagnosis was identified as DLGNT. In contrast to most reported DLGNTs, the tumour described in this manuscript did not present with diffuse leptomeningeal spread, but later presented with leptomeningeal involvement in the brain and spinal cord. Our case expands the spectrum of radiological features, provides a long-term clinical and radiological follow-up, and highlights the major role of molecular genetic testing in unusual cases. Full article

(This article belongs to the Special Issue Brain Tumor Imaging)

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16 pages, 320 KiB

Open AccessReview

Targeted Therapies in Rare Brain Tumours

by Francesco Bruno, Alessia Pellerino, Luca Bertero, Riccardo Soffietti and Roberta Rudà

Int. J. Mol. Sci. 2021, 22(15), 7949; https://doi.org/10.3390/ijms22157949 - 26 Jul 2021

Cited by 8 | Viewed by 3309

Abstract

Rare central nervous system (CNS) tumours represent a unique challenge. Given the difficulty of conducting dedicated clinical trials, there is a lack of therapies for these tumours supported by high quality evidence, and knowledge regarding the impact of standard treatments (i.e., surgery, radiotherapy or chemotherapy) is commonly based on retrospective studies. Recently, new molecular techniques have led to the discovery of actionable molecular alterations. The aim of this article is to review recent progress in the molecular understanding of and therapeutic options for rare brain tumours, both in children and adults. We will discuss options such as targeting the mechanistic target of rapamycin (mTOR) pathway in subependymal giant cells astrocytomas (SEGAs) of tuberous sclerosis and BRAF V600E mutation in rare glial (pleomorphic xanthoastrocytomas) or glioneuronal (gangliogliomas) tumours, which are a model of how specific molecular treatments can also favourably impact neurological symptoms (such as seizures) and quality of life. Moreover, we will discuss initial experiences in targeting new molecular alterations in gliomas, such as isocitrate dehydrogenase (IDH) mutations and neurotrophic tyrosine receptor kinase (NTRK) fusions, and in medulloblastomas such as the sonic hedgehog (SHH) pathway. Full article

(This article belongs to the Special Issue Tumors of the Nervous System: New Insights into Signaling, Genetics and Therapeutic Targeting 2.0)

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