Grace I L Tan1, Khurshid Merchant2, Enrica E K Tan3, David C Y Low1,4,5, Lee Ping Ng1, Wan Tew Seow1,4,5, Sharon Y Y Low6,7,8. 1. Neurosurgical Service, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. 2. Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. 3. Paediatric Haematology/Oncology Service, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. 4. Department of Neurosurgery, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore. 5. SingHealth Duke-NUS Neuroscience Academic Clinical Program, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore. 6. Neurosurgical Service, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. sharon.low.y.y@singhealth.com.sg. 7. Department of Neurosurgery, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore. sharon.low.y.y@singhealth.com.sg. 8. SingHealth Duke-NUS Neuroscience Academic Clinical Program, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore. sharon.low.y.y@singhealth.com.sg.
Abstract
PURPOSE: Diffuse leptomeningeal glioneuronal tumour (DLGNT) is an extremely rare tumour involving the neuroaxis. At present, its exact pathogenesis and associated factors remain incompletely characterised. Recent molecular investigations in a small cohort have offered some insights into this disease. However, the role of germline findings has not yet been fully explored in affected patients. The authors present a case of DLGNT, focusing on the clinical and molecular features with reference to current disease knowledge. METHODS: A 4-year-old male presented with raised intracranial pressure symptoms secondary to extensive leptomeningeal disease of the brain and spine. Preliminary impression was that of an inflammatory lesion. RESULTS: A lumbar biopsy of the lesion confirmed DLGNT on routine diagnostic examination. Further molecular analysis of his tumour and blood demonstrated a previously unreported TP53 exon 5 (c.147V > I) germline variant. Based on the latest DLGNT molecular subtyping classification, his tumour falls into the group with better clinical outcome. However, his germline findings may add an extra layer of uncertainty to his overall prognosis. CONCLUSION: Given that much remains unknown in many rare paediatric tumours at this stage, isolated findings found in an individual may be of significance. Supplementary genetic information, together with tumour molecular analysis, add to our current understanding of this uncommon disease. This case highlights the benefit of combined clinical and molecular efforts, including germline testing, especially for children affected by such challenging neoplasms.
PURPOSE: Diffuse leptomeningeal glioneuronal tumour (DLGNT) is an extremely rare tumour involving the neuroaxis. At present, its exact pathogenesis and associated factors remain incompletely characterised. Recent molecular investigations in a small cohort have offered some insights into this disease. However, the role of germline findings has not yet been fully explored in affected patients. The authors present a case of DLGNT, focusing on the clinical and molecular features with reference to current disease knowledge. METHODS: A 4-year-old male presented with raised intracranial pressure symptoms secondary to extensive leptomeningeal disease of the brain and spine. Preliminary impression was that of an inflammatory lesion. RESULTS: A lumbar biopsy of the lesion confirmed DLGNT on routine diagnostic examination. Further molecular analysis of his tumour and blood demonstrated a previously unreported TP53 exon 5 (c.147V > I) germline variant. Based on the latest DLGNT molecular subtyping classification, his tumour falls into the group with better clinical outcome. However, his germline findings may add an extra layer of uncertainty to his overall prognosis. CONCLUSION: Given that much remains unknown in many rare paediatric tumours at this stage, isolated findings found in an individual may be of significance. Supplementary genetic information, together with tumour molecular analysis, add to our current understanding of this uncommon disease. This case highlights the benefit of combined clinical and molecular efforts, including germline testing, especially for children affected by such challenging neoplasms.
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