Sabino Luzzi1, Angela Elia2, Mattia Del Maestro3, Samer K Elbabaa4, Sergio Carnevale5, Francesco Guerrini2, Massimo Caulo6, Patrizia Morbini5, Renato Galzio7. 1. Neurosurgery Unit, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Neurosurgery Unit, Department of Surgical Sciences, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; D.E.O.T. Department of Emergency and Organ Transplantation, University of Bari "Aldo Moro", Bari, Italy. Electronic address: sabino.luzzi@unipv.it. 2. Neurosurgery Unit, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy. 3. PhD School in Experimental Medicine, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Neurosurgery Unit, Department of Surgical Sciences, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. 4. Pediatric Neurosurgery Department, Pediatric Neuroscience Center of Excellence, Arnold Palmer Hospital for Children, Orlando, Florida, USA. 5. Unit of Pathological Anatomy, Department of Molecular Medicine, University of Pavia, Pavia, Italy. 6. Department of Neuroscience, Imaging and Clinical Sciences, University "G. d'Annunzio", Chieti, Italy. 7. Neurosurgery Unit, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Neurosurgery Unit, Department of Surgical Sciences, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
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.
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 BRAFV600E 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 BRAFV600E 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.
Authors: Gabriele Savioli; Iride Francesca Ceresa; Sarah Macedonio; Sebastiano Gerosa; Mirko Belliato; Giorgio Antonio Iotti; Sabino Luzzi; Mattia Del Maestro; Gianluca Mezzini; Alice Giotta Lucifero; Elvis Lafe; Anna Simoncelli; Federica Manzoni; Lorenzo Cobianchi; Mario Mosconi; Fabrizio Cuzzocrea; Francesco Benazzo; Giovanni Ricevuti; Maria Antonietta Bressan Journal: Medicina (Kaunas) Date: 2020-04-24 Impact factor: 2.430
Authors: Sabino Luzzi; Alberto Maria Crovace; Mattia Del Maestro; Alice Giotta Lucifero; Samer K Elbabaa; Benedetta Cinque; Paola Palumbo; Francesca Lombardi; Annamaria Cimini; Maria Grazia Cifone; Antonio Crovace; Renato Galzio Journal: Heliyon Date: 2019-11-26
Authors: Rutger J Slegers; Jan Beckervordersandforth; Ann Hoeben; Govert Hoogland; Martijn P G Broen; Monique Anten; Jim T A Dings; Piet van den Ende; Wouter J P Henneman; Olaf E M G Schijns Journal: Surg Neurol Int Date: 2022-02-11