Joel S Katz1, Hyman Frankel2, Tracy Ma2, David Zagzag2,3, Benjamin Liechty3, Bruria Ben Zeev4, Michal Tzadok4, Orrin Devinsky5, Howard L Weiner6, Jonathan Roth7. 1. Department of Neurosurgery, OhioHealth, Grant and Riverside Medical Center, 111 S Grant Avenue, Columbus, OH, 43215, USA. 2. Department of Neurosurgery, Division of Pediatric Neurosurgery, NYU Langone Medical Center, 550 First Avenue, New York, NY, 10016, USA. 3. Department of Pathology, NYU Langone Medical Center, 550 First Avenue, New York, NY, 10016, USA. 4. Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, 52621, Tel Hashomer, Israel. 5. Comprehensive Epilepsy Center, NYU Langone Medical Center, 550 First Avenue, New York, NY, 10016, USA. 6. Department of Neurosurgery, Texas Children's Hospital, 6701 Fannin Street, Suite 1230.01, Houston, TX, 77030, USA. 7. Department of Pediatric Neurosurgery Dana Children's Hospital, Tel Aviv Medical Center, 6 Weizman Street, 64239, Tel Aviv, Israel. jonaroth@gmail.com.
Abstract
INTRODUCTION: Tuberous sclerosis is associated with three central nervous system pathologies: cortical/subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). Tubers are associated with epilepsy, which is often medication-resistant and often leads to resective surgery. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be effective reducing seizure burden in some patients with tuberous sclerosis complex (TSC)-related refractory epilepsy. mTORi have also been shown to be an alternative for surgery treating SEGAs. We describe several cases of resected tubers that contained SEGA tissue without an intraventricular SEGA. METHODS: After institutional review board (IRB) protocol approval, we retrospectively reviewed the surgical-pathological data for all TSC patients who underwent cortical resections for treatment of refractory epilepsy at NYU Langone Medical Center and Tel Aviv Medical Center between 2003 and 2013. Data included demographics, epilepsy type, MRI characteristics, epilepsy outcome, and histopathological staining. RESULTS: We reviewed cortical resections from 75 patients with complete pathological studies. In three patients, cortical lesions demonstrated histopathological findings consistent with a SEGA within the resected tuber tissue, with no intraventricular SEGA. All lesions were cortically based and none had any intraventricular extension. No patient had been treated before surgery with an mTORi. Two of the three patients remain Engel grade I-II. All lesions stained positive for glial fibrillary acidic protein (GFAP), synaptophysin, and neuronal nuclear antigen (NeuN). CONCLUSION: This is the first description of cortical tubers harboring SEGA tissue. This observation though preliminary may suggest a subgroup of patients with intractable epilepsy in whom mTORi may be considered before surgical intervention.
INTRODUCTION:Tuberous sclerosis is associated with three central nervous system pathologies: cortical/subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). Tubers are associated with epilepsy, which is often medication-resistant and often leads to resective surgery. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be effective reducing seizure burden in some patients with tuberous sclerosis complex (TSC)-related refractory epilepsy. mTORi have also been shown to be an alternative for surgery treating SEGAs. We describe several cases of resected tubers that contained SEGA tissue without an intraventricular SEGA. METHODS: After institutional review board (IRB) protocol approval, we retrospectively reviewed the surgical-pathological data for all TSC patients who underwent cortical resections for treatment of refractory epilepsy at NYU Langone Medical Center and Tel Aviv Medical Center between 2003 and 2013. Data included demographics, epilepsy type, MRI characteristics, epilepsy outcome, and histopathological staining. RESULTS: We reviewed cortical resections from 75 patients with complete pathological studies. In three patients, cortical lesions demonstrated histopathological findings consistent with a SEGA within the resected tuber tissue, with no intraventricular SEGA. All lesions were cortically based and none had any intraventricular extension. No patient had been treated before surgery with an mTORi. Two of the three patients remain Engel grade I-II. All lesions stained positive for glial fibrillary acidic protein (GFAP), synaptophysin, and neuronal nuclear antigen (NeuN). CONCLUSION: This is the first description of cortical tubers harboring SEGA tissue. This observation though preliminary may suggest a subgroup of patients with intractable epilepsy in whom mTORi may be considered before surgical intervention.
Authors: Hugo Pereira Pinto Gama; Antônio José da Rocha; Flávio Túlio Braga; Carlos Jorge da Silva; Antonio Carlos Martins Maia; Rogério Gonçalves de Campos Meirelles; José Iram Mendonça do Rego; Henrique Manoel Lederman Journal: Pediatr Radiol Date: 2005-11-11
Authors: S Iwasaki; H Nakagawa; K Kichikawa; A Fukusumi; Y Watabe; K Kitamura; H Otsuji; H Ohishi; H Uchida Journal: AJNR Am J Neuroradiol Date: 1990 Sep-Oct Impact factor: 3.825
Authors: Anika Bongaarts; Krinio Giannikou; Roy J Reinten; Jasper J Anink; James D Mills; Floor E Jansen; G M Wim Spliet; Willfred F A den Dunnen; Roland Coras; Ingmar Blümcke; Werner Paulus; Theresa Scholl; Martha Feucht; Katarzyna Kotulska; Sergiusz Jozwiak; Anna Maria Buccoliero; Chiara Caporalini; Flavio Giordano; Lorenzo Genitori; Figen Söylemezoğlu; José Pimentel; Mark Nellist; Antoinette Y N Schouten-van Meeteren; Anwesha Nag; Angelika Mühlebner; David J Kwiatkowski; Eleonora Aronica Journal: Oncotarget Date: 2017-09-08