Dysembryoplastic Neuroepithelial Tumors: What You Need to Know

Sabino Luzzi, Angela Elia, Mattia Del Maestro, Samer K. Elbabaa, Sergio Carnevale, Francesco Guerrini, Massimo Caulo, Patrizia Morbini, Renato Galzio

Research output: Contribution to journalReview article

4 Citations (Scopus)

Abstract

Objective: An updated and comprehensive review on dysembryoplastic neuroepithelial tumor (DNET) focusing on differential diagnosis, atypical presentation, seizure outcome, and risk of malignant transformation. Methods: A PubMed/MEDLINE-based literature search has been performed using “dysembryoplastic neuroepithelial tumor” as a keyword. Two treated cases characterized by an atypical presentation have been reviewed. Results: Of 1162 articles, 200 relevant studies have been selected. DNET is a benign mixed neuronal-glial tumor causing drug-resistant epilepsy primarily in children and young adults. The typical radiological pattern is a magnetic resonance imaging (MRI) T1-hypointense, T2-, and fluid-attenuated inversion-recovery hyperintense multicystic lesion involving the cerebral cortex with no edema. Contrast enhancement may be present and a focal cortical dysplasia is commonly associated with it. MRI diffusion, perfusion, and spectroscopy have a paramount role in the differential diagnosis. The “specific glioneuronal elements” are pathognomonic. They are positive for S100 protein, synaptofisin, neuronal nuclei, oligodendrocyte transcription factor, neurite outgrowth inhibitor, and microtubule-associated protein 2, but negative for glial fibrillary acidic protein. As opposed to v-myb avian myeloblastosis viral oncogene homolog, isocitrate dehydrogenase-1/isocitrate dehydrogenase-2 mutation and codeletion 1p-19q, fibroblast growth factor receptor 1 and BRAF V600E mutations are present. The effectiveness of surgery on seizure outcome has been established. Rare malignant transformations have been reported, especially in extra-temporal and complex forms. Conclusions: Advanced MRI techniques are fundamental in the differential diagnosis for DNET versus other low-grade gliomas. Immuno-phenotype assessment and search for fibroblast growth factor receptor 1 and BRAF V600E mutations limit the risk of misdiagnoses. A gross total tumor removal is generally associated with a seizure-free outcome. Recurrences and malignant transformations may rarely follow, legitimizing MRI surveillance in cases of subtotal tumor resection.

Original languageEnglish
Pages (from-to)255-265
Number of pages11
JournalWorld Neurosurgery
Volume127
DOIs
Publication statusPublished - Jul 1 2019

Fingerprint

Neuroepithelial Neoplasms
Receptor, Fibroblast Growth Factor, Type 1
Isocitrate Dehydrogenase
Seizures
Differential Diagnosis
Magnetic Resonance Imaging
Mutation
Malformations of Cortical Development
Neoplasms
Diffusion Magnetic Resonance Imaging
Microtubule-Associated Proteins
S100 Proteins
Magnetic Resonance Angiography
Glial Fibrillary Acidic Protein
Oligodendroglia
Diagnostic Errors
Oncogenes
PubMed
MEDLINE
Glioma

Keywords

  • BRAF
  • Brain neoplasm
  • Diffusion-weighted MRI
  • DNET
  • Drug-resistant epilepsy
  • MR spectroscopy
  • Neuroepithelial tumor

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

Cite this

Dysembryoplastic Neuroepithelial Tumors : What You Need to Know. / Luzzi, Sabino; Elia, Angela; Del Maestro, Mattia; Elbabaa, Samer K.; Carnevale, Sergio; Guerrini, Francesco; Caulo, Massimo; Morbini, Patrizia; Galzio, Renato.

In: World Neurosurgery, Vol. 127, 01.07.2019, p. 255-265.

Research output: Contribution to journalReview article

Luzzi, Sabino ; Elia, Angela ; Del Maestro, Mattia ; Elbabaa, Samer K. ; Carnevale, Sergio ; Guerrini, Francesco ; Caulo, Massimo ; Morbini, Patrizia ; Galzio, Renato. / Dysembryoplastic Neuroepithelial Tumors : What You Need to Know. In: World Neurosurgery. 2019 ; Vol. 127. pp. 255-265.
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abstract = "Objective: An updated and comprehensive review on dysembryoplastic neuroepithelial tumor (DNET) focusing on differential diagnosis, atypical presentation, seizure outcome, and risk of malignant transformation. Methods: A PubMed/MEDLINE-based literature search has been performed using “dysembryoplastic neuroepithelial tumor” as a keyword. Two treated cases characterized by an atypical presentation have been reviewed. Results: Of 1162 articles, 200 relevant studies have been selected. DNET is a benign mixed neuronal-glial tumor causing drug-resistant epilepsy primarily in children and young adults. The typical radiological pattern is a magnetic resonance imaging (MRI) T1-hypointense, T2-, and fluid-attenuated inversion-recovery hyperintense multicystic lesion involving the cerebral cortex with no edema. Contrast enhancement may be present and a focal cortical dysplasia is commonly associated with it. MRI diffusion, perfusion, and spectroscopy have a paramount role in the differential diagnosis. The “specific glioneuronal elements” are pathognomonic. They are positive for S100 protein, synaptofisin, neuronal nuclei, oligodendrocyte transcription factor, neurite outgrowth inhibitor, and microtubule-associated protein 2, but negative for glial fibrillary acidic protein. As opposed to v-myb avian myeloblastosis viral oncogene homolog, isocitrate dehydrogenase-1/isocitrate dehydrogenase-2 mutation and codeletion 1p-19q, fibroblast growth factor receptor 1 and BRAF V600E mutations are present. The effectiveness of surgery on seizure outcome has been established. Rare malignant transformations have been reported, especially in extra-temporal and complex forms. Conclusions: Advanced MRI techniques are fundamental in the differential diagnosis for DNET versus other low-grade gliomas. Immuno-phenotype assessment and search for fibroblast growth factor receptor 1 and BRAF V600E mutations limit the risk of misdiagnoses. A gross total tumor removal is generally associated with a seizure-free outcome. Recurrences and malignant transformations may rarely follow, legitimizing MRI surveillance in cases of subtotal tumor resection.",
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