Adult diffuse leptomeningeal glioneuronal tumour with limited leptomeningeal involvement,lack of 1p deletion and BRAF V600E mutation |
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| Affiliation: | 1. Department of Radiology, Royal Melbourne Hospital, Parkville, VIC, Australia;2. Department of Pathology, Royal Melbourne Hospital, Parkville, VIC, Australia;3. Faculty of Medicine, Dentistry, and Health Sciences at the University of Melbourne, Parkville, Australia;1. Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100041, China;2. Department of Neurology, Peking University Shougang Hospital, Beijing 100144, China;3. China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China;1. Department of Neurosurgery, University of Bern, Bern, Switzerland;2. Division of Neuropathology, Department of Pathology, University of Bern, Bern, Switzerland;3. Department of Neurosurgery and F.M. Kirby Neurobiology Center, Boston Children''s Hospital, Boston, Massachusetts, USA;4. Harvard Medical School, Boston, Massachusetts, USA;1. Department of Radiology, Royal Melbourne Hospital, Melbourne, Australia;2. Department of Anatomical Pathology, Royal Melbourne Hospital, Melbourne, Australia;3. Faculty of Medicine, Dentistry, and Health Sciences at the University of Melbourne, Parkville, Australia;1. Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, FL, USA;2. Department of Neurological Surgery, San Francisco University of Quito School of Medicine, Quito, Ecuador;3. Department of Pathology, University of Miami Miller School of Medicine, Miami, FL, USA |
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| Abstract: | Diffuse leptomeningeal glioneuronal tumours (DLGNT) are rare primary CNS tumours, traditionally characterised by leptomeningeal growth and usually affecting children. A recent large study defined DLGNT on a molecular basis, of which all demonstrated 1p deletions. The vast majority also demonstrated MAPK/ERK pathway activations, however BRAF V600E mutation has not been previously documented in adult cases. In this case report, we describe an unusual cerebral DLGNT, with limited leptomeningeal spread, intact 1p status and a BRAF V600E mutation. |
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| Keywords: | Diffuse leptomeningeal glioneuronal tumour DLGNT 1p BRAF V600E |
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