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Clinical Genetics May 2020
Topics: Child; DNA-Binding Proteins; Female; Genetic Predisposition to Disease; Humans; Male; Neoplasms, Neuroepithelial; Oncogene Proteins, Fusion; Pediatrics; RNA-Binding Protein EWS; Transcription Factors
PubMed: 31925773
DOI: 10.1111/cge.13703 -
Acta Neuropathologica Communications Mar 2020Low grade gliomas are the most frequent brain tumors in children and encompass a spectrum of histologic entities which are currently assigned World Health Organisation... (Review)
Review
Low grade gliomas are the most frequent brain tumors in children and encompass a spectrum of histologic entities which are currently assigned World Health Organisation grades I and II. They differ substantially from their adult counterparts in both their underlying genetic alterations and in the infrequency with which they transform to higher grade tumors. Nonetheless, children with low grade glioma are a therapeutic challenge due to the heterogeneity in their clinical behavior - in particular, those with incomplete surgical resection often suffer repeat progressions with resultant morbidity and, in some cases, mortality. The identification of up-regulation of the RAS-mitogen-activated protein kinase (RAS/MAPK) pathway as a near universal feature of these tumors has led to the development of targeted therapeutics aimed at improving responses while mitigating patient morbidity. Here, we review how molecular information can help to further define the entities which fall under the umbrella of pediatric-type low-grade glioma. In doing so we discuss the specific molecular drivers of pediatric low grade glioma and how to effectively test for them, review the newest therapeutic agents and their utility in treating this disease, and propose a risk-based stratification system that considers both clinical and molecular parameters to aid clinicians in making treatment decisions.
Topics: Astrocytoma; Brain Neoplasms; Child; Ganglioglioma; Glioma; High-Throughput Nucleotide Sequencing; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; MAP Kinase Signaling System; Membrane Proteins; Mitogen-Activated Protein Kinase Kinases; Molecular Diagnostic Techniques; Molecular Targeted Therapy; Neoplasm Grading; Neoplasms, Neuroepithelial; Pathology, Molecular; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Receptor, Fibroblast Growth Factor, Type 1; Tuberous Sclerosis Complex 1 Protein; Tuberous Sclerosis Complex 2 Protein; Up-Regulation; World Health Organization; ras Proteins
PubMed: 32164789
DOI: 10.1186/s40478-020-00902-z -
Acta Neuropathologica Communications Mar 2020Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this... (Review)
Review
Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as low-grade, developmental, epilepsy-associated brain tumors (LEAT) is different from those frequently encountered in adults as (A): 77% of LEAT occur in the temporal lobe; (B): the vast majority of LEAT are of low malignancy and classified as WHO I°; (C): LEAT are often composed of mixed glial and neuronal cell components and present with variable growth patterns including small cysts or nodules; (D): LEAT do not share common gene driving mutations, such as IDH1 or 1p/19q co-deletions. Characteristic entities comprise the ganglioglioma (GG), the dysembryoplastic neuroepithelial tumor (DNT), the angiocentric glioma (AG), the isomorphic diffuse glioma (IDG) and the papillary glio-neuronal tumor (PGNT), representing 73.2% of 1680 tumors collected in a large German series of 6747 patients submitted to epilepsy surgery. In the realm of exciting discoveries of genetic drivers of brain tumors new genes have been also reported for LEAT. BRAF V600E mutations were linked to GG with CD34 expression, FGFR1 mutations to DNT, MYB alterations to AG and also IDG and PRKCA fusions to PGNT, suggesting the possibility to also develop a genetically driven tumor classification scheme for LEAT. Rare availability of LEAT in a single center is a challenging obstacle, however, to systematically unravel the neurobiological nature and clinical behavior of LEAT. Other challenges in need of clarification include malignant tumor progression of LEAT entities, seizure relapse in patients following bulk tumor resection and the controversial issue of associated focal cortical dysplasia as additional pathomechanism. In order to advance our understanding and promote reliable diagnostic work-up of LEAT, we recommend, therefore, international collaboration to achieve our goals.
Topics: Arachnoid Cysts; Astrocytoma; Brain Neoplasms; Central Nervous System Cysts; Dermoid Cyst; Epidermal Cyst; Epilepsies, Partial; Ganglioglioma; Humans; Molecular Diagnostic Techniques; Neoplasm Grading; Neoplasms, Neuroepithelial; Oligodendroglioma; Protein Kinase C-alpha; Proto-Oncogene Proteins; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-myb; Receptor, Fibroblast Growth Factor, Type 1; Trans-Activators
PubMed: 32151273
DOI: 10.1186/s40478-020-00904-x -
Clinical Neuropathology 2012Dysembryoplastic neuroepithelial tumor (DNT)-like neoplasms of the septum pellucidum are extremely rare. We reviewed 2 cases of DNT-like neoplasm of the septum... (Review)
Review
Dysembryoplastic neuroepithelial tumor (DNT)-like neoplasms of the septum pellucidum are extremely rare. We reviewed 2 cases of DNT-like neoplasm of the septum pellucidum and specifically studied the immunohistochemical features and chromosomes 1p and 19q deletions. One case was a 26-year-old woman who complained of aggravated headache for 2 weeks. The other case was a 31-year-old female presenting with double vision for a month. Histological examinations showed that the lesions were composed of uniform oligodendrocytelike cells (OLCs) with obvious floating neurons in a mucin-rich background. Immunohistochemical studies revealed that both tumors were diffusely positive for Synaptophysin and Olig2. Sporadic neurons were clearly positive for NeuN. Loss of chromosome 1p/19q and isocitrate dehydrogenase 1(IDH1) mutations were not identified in both cases. It might indicate that these OLCs of DNT-like neoplasms were genetically different from glial tumors, although they showed close morphological similarities.
Topics: Adult; Brain Neoplasms; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 19; Female; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Isocitrate Dehydrogenase; Mutation; Neoplasms, Neuroepithelial; Septum Pellucidum
PubMed: 22192702
DOI: 10.5414/np300410 -
Folia Neuropathologica 2017. (Review)
Review
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Topics: Brain Neoplasms; Glioma; Humans; Neoplasms, Neuroepithelial
PubMed: 28430287
DOI: 10.5114/fn.2017.66708 -
Journal of Neurology, Neurosurgery, and... Sep 1980A six month old boy had a mesencephalic melanotic neoplasm of the neuro-epithelial derivatives which produced mucin. Location in the mesencephalon and production of the... (Review)
Review
A six month old boy had a mesencephalic melanotic neoplasm of the neuro-epithelial derivatives which produced mucin. Location in the mesencephalon and production of the mucin have not been described previously for this kind of intracranial tumour. The various cellular elements within the growth are in accord with diverse differentiations of the neuroepithelium of the neural tube, the neuroectodermal part of the neural crest, or both. Derivatives of the neural tube and crest can be melanotic, and some neuroepithelial derivatives (ependyma, oligodendrocyte, and choroidal epithelium) produce mucin. Hence, melanotic neuroepithelial neoplasms with mucinous product can occur. The present tumour is similar to lesions variously designated as melanotic medulloblastoma, retinal anlage tumour, and progonoma. Diverse differentiation of the neuroepithelium of the neural tube, or of the neuroectodermal part of the neural crest, or both would create these variously named tumours. The frequency of melanotic neuroepithelial neoplasms in infancy, and the presence of papillae strongly suggest congental derivation.
Topics: Adult; Aged; Brain Neoplasms; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Melanins; Mesencephalon; Mucins; Neuroectodermal Tumors, Primitive, Peripheral
PubMed: 6999130
DOI: 10.1136/jnnp.43.9.810 -
Balkan Medical Journal Jun 2020
Topics: Antineoplastic Agents, Alkylating; Antineoplastic Agents, Immunological; Bevacizumab; Headache; Humans; Magnetic Resonance Imaging; Male; Neoplasms, Neuroepithelial; Radiotherapy; Temozolomide; Young Adult
PubMed: 32212579
DOI: 10.4274/balkanmedj.galenos.2020.2019.11.39 -
Neuro-Chirurgie Feb 2012Thalamo-mesencephalic neuroepithelial cysts are rare lesions of the central nervous system. They are thought to arise from neuroectoderm and are also referred to as...
Thalamo-mesencephalic neuroepithelial cysts are rare lesions of the central nervous system. They are thought to arise from neuroectoderm and are also referred to as ependymal cysts due to their origin. It can remain asymptomatic throughout life or rarely can cause symptoms. We describe a 42-year-old woman who presented with thalamic syndrome due to a neuroepithelial cyst of the thalamo-midbrain. Differential diagnosis is made with other cystic lesions in the brain. However a good analysis of imaging feature led to diagnosis. When the lesion is symptomatic, mini-invasive procedure is indicated.
Topics: Adult; Central Nervous System Cysts; Diagnosis, Differential; Female; Humans; Mesencephalon; Neoplasms, Neuroepithelial; Neurosurgical Procedures; Thalamic Diseases
PubMed: 22030167
DOI: 10.1016/j.neuchi.2011.09.003 -
Neurologia (Barcelona, Spain) Apr 2010gliomatosis cerebri (GC) is a rare, diffusely growing glial tumour characterized by extensive brain infiltration. The diversity of histological subtype and grade on...
INTRODUCTION
gliomatosis cerebri (GC) is a rare, diffusely growing glial tumour characterized by extensive brain infiltration. The diversity of histological subtype and grade on presentation among different subjects, in addition to the usually poor response to treatment make GC an uncertain entity where many questions still remain unanswered. One article in this issue of NEUROLOGIA describes a series of 22 patients with GC, where clinical, therapeutic and outcome results are detailed.
DEVELOPMENT
clinical presentation of GC is non-specific and, although the neuroimage is characteristic, the spectrum of differential diagnosis is wide. Despite the fact that known prognostic factors in glioma also seem to be involved in GC, the heterogeneity of pathology and molecular findings on biopsy samples makes it difficult to characterise GC correctly. Therefore, variability of outcome and response to therapy is the rule. Evidence on therapeutic strategies is based on case-series. According to this, the optimal treatment is not well established. Part of current research is focused on identifying molecular predictor factors of response to chemotherapy.
CONCLUSIONS
the addition of chemotherapy in the classic treatment schedule based on radiotherapy seems to produce better responses in GC patients. However, the outcome of these patients remains poor with low survival rates. Phase III multi-centre trials to evaluate different therapeutic strategies in GC are essential. Further knowledge on the histological profile and molecular prognostic factors is also required. Patients should be stratified according to the prognostic factors identified.
Topics: Antineoplastic Agents; Brain Neoplasms; Diagnosis, Differential; Humans; Neoplasms, Neuroepithelial; Prognosis; Treatment Outcome
PubMed: 20492859
DOI: 10.1016/s0213-4853(10)70001-3 -
Handbook of Clinical Neurology 2012
Review
Topics: Humans; Neoplasms, Neuroepithelial
PubMed: 22230515
DOI: 10.1016/B978-0-444-53502-3.00005-7