Anshit Goyal1, Iahn Cajigas2, George M Ibrahim3, Carole D Brathwaite4, Ziad Khatib5, Toba Niazi6, Sanjiv Bhatia6, John Ragheb6. 1. Mayo Clinic Neuro-Informatics Laboratory, Mayo Clinic, Rochester, Minnesota, USA. 2. Department of Neurosurgery, Nicklaus Children's Hospital, Miami, Florida, USA; Department of Neurosurgery, University of Miami Miller School of Medicine, Miami, Florida, USA. Electronic address: icajigas@med.miami.edu. 3. Department of Neurosurgery, Nicklaus Children's Hospital, Miami, Florida, USA. 4. Department of Pathology, Nicklaus Children's Hospital, Miami, Florida, USA. 5. Department of Pediatric Hematology-Oncology, Nicklaus Children's Hospital, Miami, Florida, USA. 6. Department of Neurosurgery, Nicklaus Children's Hospital, Miami, Florida, USA; Department of Neurosurgery, University of Miami Miller School of Medicine, Miami, Florida, USA.
Abstract
BACKGROUND: Medulloblastomas are common childhood central nervous system tumors that are prone to leptomeningeal spread. Intramedullary dissemination is rare with very few case reports existing in the available literature. CASE DESCRIPTION: The authors here present a case of a 14-year-old boy with Li-Fraumeni syndrome and medulloblastoma who underwent surgical resection of spinal intramedullary spread. Histopathology revealed the tumor to be anaplastic medulloblastoma, same as the intracranial lesions. Genetic testing of the metastatic deposit revealed loss of functions mutations in SUFU, NOTCH3, and TP53 and TERC amplification. An improvement in ambulatory function at short-term follow-up was noted before the patient died of disseminated disease. CONCLUSIONS: Intramedullary metastasis of medulloblastoma remains a rare disease. Surgical resection might play a possible role in management in addition to radiation and chemotherapy.
BACKGROUND:Medulloblastomas are common childhood central nervous system tumors that are prone to leptomeningeal spread. Intramedullary dissemination is rare with very few case reports existing in the available literature. CASE DESCRIPTION: The authors here present a case of a 14-year-old boy with Li-Fraumeni syndrome and medulloblastoma who underwent surgical resection of spinal intramedullary spread. Histopathology revealed the tumor to be anaplastic medulloblastoma, same as the intracranial lesions. Genetic testing of the metastatic deposit revealed loss of functions mutations in SUFU, NOTCH3, and TP53 and TERC amplification. An improvement in ambulatory function at short-term follow-up was noted before the patient died of disseminated disease. CONCLUSIONS: Intramedullary metastasis of medulloblastoma remains a rare disease. Surgical resection might play a possible role in management in addition to radiation and chemotherapy.
Authors: Felix Ehret; Carolin Senger; Markus Kufeld; Christoph Fürweger; Melina Kord; Alfred Haidenberger; Paul Windisch; Daniel Rueß; David Kaul; Maximilian Ruge; Christian Schichor; Jörg-Christian Tonn; Alexander Muacevic Journal: Cancers (Basel) Date: 2021-01-15 Impact factor: 6.639
Authors: Musa Alharbi; Nahla Mobark; Yara Bashawri; Leen Abu Safieh; Albandary Alowayn; Rasha Aljelaify; Mariam AlSaeed; Amal Almutairi; Fatimah Alqubaishi; Ebtehal AlSolme; Maqsood Ahmad; Ayman Al-Banyan; Fahad E Alotabi; Jonathan Serrano; Matija Snuderl; May Al-Rashed; Malak Abedalthagafi Journal: Front Neurol Date: 2020-03-20 Impact factor: 4.003