Subependymal Giant Cell Astrocytoma : Epidemiological, clinical, histological and immunohistochemical characteristics : three cases presentation

Nawal hammas, My Youssef Alaoui Lamrani, Boubacar Efared, mustapha Maaroufi, Elfaiz Mohamed Chaoui, Hind El Fatemi, Laila chbani

Abstract


Background: Subependymal giant cell astrocytoma (SEGA) is a rare benign tumor, which typically occurs in the lateral ventricle. Its histogenesis is poorly understood.

Cases presentation: We reviewed the clinical, histological and immunohistochemistrical characteristics of three cases of subependymal giant cell astrocytoma. The age ranged between 6 years old and 10 years old. Two of patients were male. All patients show symptoms in relation to intracranial hypertension with seizures in one case. All the tumors were located in the lateral ventricle. One patient showed tuberous sclerosis complex signs (subcortical tubers). A tumor resection was performed in all cases and microscopic examination revealed a tumor composed of ganglion-like cells, spindle cells, gémistocytic-like cells and multinucleated cells. Immunohistochemistry showed focal Glial fibrillary acid protein (GFAP) positivity and neurofilament, synaptophysin and S100 protein negativity in all cases. Ki-67 labeling index ranged from 1% to 10%.

Conclusion: Astrocytoma subependymal giant cell is a rare benign tumor that affects children and young adults. Its association with tuberous sclerosis complex is well known. Most patients tend to present with convulsions and symptoms related to intracranial hypertension. Radiologically, CT scan and resonance magnetic imaging do not show specific signs. Microscopically, this tumor is conventionally composed of a proliferation of three cell types: ganglion-like cells; fibrillar spindle cells; and gemistocytic-like cells. Immunohistochemistry reveals that both glial and neuronal proteins are expressed. If the histological diagnosis of this tumor is enough easy, the main problem remains in its histogenesis. SEGA is a low-grade tumor with excellent prognosis if surgically removed.


Keywords


Subependymal giant cell astrocytoma; brain neoplasm; tuberous sclerosis complex; histogenesis; immunohistochemistry.

Full Text:

PDF

References


Hafsa El Ouazzani, Amal Harmouch, Moustafa Maher, Sanae Sefiani. Astrocytome sous épendymaire à cellules géantes: une étude morphologique et immunohistochimique de cinq cas. Swiss Archives of Neurology and Psychiatry 2012; 163 (6) : 221–5

Tae-Young Jung, Young-Hee Kim, Shin Jung, Hee-Jo Baek, Kyung-Hwa Lee. The Clinical Characteristics of Subependymal Giant Cell Astrocytoma: Five Cases. Brain Tumor Res Treat 2015;3(1):44-47

Jonathan Roth, E. Steve Roach, Ute Bartels, Sergiusz Jó zwiak, Mary Kay Koenig, Howard L. Weiner, David N. Franz, Henry Z. Wang. Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex

Consensus Conference 2012. Pediatric Neurology 49 (2013) 439e444

Mehar Chand Sharma, Angela Mercy Ralte, Shailesh Gaekwad,1 Vani Santosh,2 Sk Shankar,2 Chitra Sarkar. Subependymal Giant Cell Astrocytoma – a Clinicopathological Study of 23 Cases with Special Emphasis on Histogenesis. PATHOLOGY ONCOLOGY RESEARCH Vol 10, No 4, 2004

Bollo RJ, Berliner JL, Fischer I, et al. Extraventricular Subependymal giant cell tumor in a child with tuberous sclerosis complex. J Neurosurg Pediatr. 2009;4:85-90.

I. Pascual-Castroviejo, S.I. Pascual-Pascual, R. Velázquez-Fragua, J. Viano, F. Carceller, J.L. Hernández-Moneo, M. Gutiérrez-Molina, C. Morales. Astrocitoma subependimario de células gigantes en el complejo de esclerosis tuberosa. Presentación de ocho pacientes infantiles. Neurología. 2010;25(5):314—321

Katarzyna Kotulska & Julita Borkowska & Marek Mandera & Marcin Roszkowski & Elzbieta Jurkiewicz & Wiesława Grajkowska & Małgorzata Bilska & Sergiusz Jóźwiak. Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex. Childs Nerv Syst (2014) 30:2037–2042

Boesel CP, Paulson GW, Kosnik EJ, Earle KM: Brain hamartomas and tumors associated with tuberous sclerosis. Neurosurgery 4: 410-417, 1979

Hussain NI, Curran A, Pilling D, Malluci CL, Ladusans EJ, Alfirevic Z, Pizer B (2006) Congenital subependymal giant cell astrocytoma diagnosed on fetal MRI. Arch Dis Child 91(6):520

Phi JH, Park SH, Chae JH, Hong KH, Park SS, Kang JH, Jun JK, Cho BK, Wang KC, Kim SK (2008) Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells. Childs Nerv Syst 24(12):1499–503

Raju GP, Urion DK, Sahin M (2007) Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol 36(2):128–31

Karina Takata; Emerson L. Gasparetto; Claudia da Costa Leite; Leandro T. Lucato; Umbertina C. Reed; Hamilton Matushita; Paulo Henrique P. de Aguiar; Sérgio Rosemberg. Astrocitoma subependimário de células gigantes em pacientes com esclerose tuberosa: achados em ressonância magnética de dez casos. Arq. Neuro-Psiquiatr. vol.65 no.2A São Paulo June 2007

Shepherd CW, Scheithauer BW, Gomez MR, et al: Subependymal giant cell astrocytoma: a clinical, pathological and flow cytometric study. Neurosurg 28: 868-864, 1991

Bonnin JM, Rubinstein LJ, Papasozomenos SC and Marangos PJ: Subependymal giant cell astrocytomas. Significance and possible cytogenetic implications of an immunohistochemical study. Acta Neuropathol 62: 185-193, 1984

C larke MJ, Fow AB, Wetien N, Raffel C. Imaging characteristics and growth of subependymal giant cell astrocytomas. Neurosurg Focus. 2006;20:E5.

Nishio S, Morioka T, Suzuki S, Kira R, Mihara F, Fukui M. Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases. J Clin Neurosci. 2001;8(1):31–4.

Nabbout R, Santos M, Rolland Y, Delalande O, Dulac O, Chiron C. Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. J Neurol Neurosurg Psychiartry. 1999;66:370–5.

Yamamoto K, Yamada K, Nakahara T, Ishihara A, Takaki S, Kochi M, Ushio Y. Rapid regrowth of solitary subependymal giant cell asrtocytoma, case report. Neurol Med Chir (Tokyo). 2002;42(5):224–7.

Lopes MBS, Wiestler OD, Stemmer-Rachamimov AO, Sharma MC. Tuberous complex and subependymal giant cell astrocytoma. In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (eds.). WHO Classification of Tumours of The Central Nervous System. 4th edn. Lyon: IARC Press; 2007. p. 218–21.

Padmalatha C, Harsuff RC, Ganick D, Hafez GR: Glioblastoma multiforme with tuberous sclerosis. Arch Lab Med 105: 645-650, 1980

C han JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin Kowalik J, et al. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: Biallelic inactivation of TSC1 or TSC2 leads to Mtor activation. J Neuropathol Exp Neurol. 2004;63:1236–42.

D abora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chang J, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001;68:64–80.

Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ,Whittemore VH, Thiele EA, Ford JP, Shah G, Cauwel H, Lebwohl D, Sahmoud T, Jozwiak S (2013) Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 381(9861):125–132

Jóźwiak S, Nabbout R, Curatolo P (2013) Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. Eur J Paediatr Neurol 17(4):348–52

Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN (2010) Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 363(19):801–1811

U.S. Food & Drug Administration [Internet]. Maryland [Updated:2012 Aug 29; cited 2013 Jan 01]. FDA Press Announcements; [about 1 screen]. Available from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm317385.htm.

Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of as¬trocytomas in tuberous sclerosis complex. Ann Neurol 2006;59:490-8.

Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624–8.

Shepherd CW, Gomez MR. Mortality in the Mayo clinic tuberous sclerosis complex study. N Y Ann Acad Sc 19; 615:375–7.

Shepherd CW, Gomez MR, Lie JT, et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991;66:792–6.

Dêbiec-Rychter M, Jesionek-Kupnicka D, Zakrzewski K, Liberski PP. Cytogenetic changes in two cases of subependymal giant-cell astrocytoma. Cancer Genet Cytogenet. 1999;109:29–33.