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Subependymal giant-cell astrocytoma(SEGA)

MedGen UID:
61446
•Concept ID:
C0205768
•
Neoplastic Process
Synonym: SEGA
SNOMED CT: SEGA - Subependymal giant cell astrocytoma (449799008); Subependymal giant cell astrocytoma (449799008); Subependymal giant cell astrocytoma (1586004)
 
HPO: HP:0009718
Monarch Initiative: MONDO:0016693
Orphanet: ORPHA251618

Definition

A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Subependymal giant-cell astrocytoma
Follow this link to review classifications for Subependymal giant-cell astrocytoma in Orphanet.

Conditions with this feature

Tuberous sclerosis 2
MedGen UID:
348170
•Concept ID:
C1860707
•
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.
See: Condition Record
Tuberous sclerosis 2

Professional guidelines

PubMed

Pharmacological treatment strategies for subependymal giant cell astrocytoma (SEGA).
Ebrahimi-Fakhari D, Franz DN
Expert Opin Pharmacother 2020 Aug;21(11):1329-1336. Epub 2020 Apr 27 doi: 10.1080/14656566.2020.1751124. PMID: 32338549
Intraocular astrocytoma and its differential diagnosis.
Pusateri A, Margo CE
Arch Pathol Lab Med 2014 Sep;138(9):1250-4. doi: 10.5858/arpa.2013-0448-RS. PMID: 25171711
Advances in the management of subependymal giant cell astrocytoma.
Beaumont TL, Limbrick DD, Smyth MD
Childs Nerv Syst 2012 Jul;28(7):963-8. Epub 2012 May 5 doi: 10.1007/s00381-012-1785-x. PMID: 22562196

Recent clinical studies

Etiology

Benign Glioma.
Wu PB, Filley AC, Miller ML, Bruce JN
Adv Exp Med Biol 2023;1405:31-71. doi: 10.1007/978-3-031-23705-8_2. PMID: 37452934
Neurosurgical Considerations of Neurocutaneous Syndromes.
Iyer RR, Strahle JM, Groves ML
Neurosurg Clin N Am 2022 Jan;33(1):81-89. Epub 2021 Oct 28 doi: 10.1016/j.nec.2021.09.013. PMID: 34801145
Neurological malignancies in neurofibromatosis type 1.
Eoli M, Saletti V, Finocchiaro G
Curr Opin Oncol 2019 Nov;31(6):554-561. doi: 10.1097/CCO.0000000000000576. PMID: 31436563
Everolimus.
Hasskarl J
Recent Results Cancer Res 2018;211:101-123. doi: 10.1007/978-3-319-91442-8_8. PMID: 30069763
Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
Józwiak S, Stein K, Kotulska K
Future Oncol 2012 Dec;8(12):1515-23. doi: 10.2217/fon.12.146. PMID: 23231513

Diagnosis

GPNMB expression differentiates subependymal giant cell astrocytoma from other mimickers.
Pan R, Wang X, Fang R, Xia Q, Wang X, Zhang R, Wei X, Wu N, Rao Q
Ann Diagn Pathol 2025 Apr;75:152442. Epub 2025 Jan 17 doi: 10.1016/j.anndiagpath.2025.152442. PMID: 39837150
Benign Glioma.
Wu PB, Filley AC, Miller ML, Bruce JN
Adv Exp Med Biol 2023;1405:31-71. doi: 10.1007/978-3-031-23705-8_2. PMID: 37452934
Pharmacological treatment strategies for subependymal giant cell astrocytoma (SEGA).
Ebrahimi-Fakhari D, Franz DN
Expert Opin Pharmacother 2020 Aug;21(11):1329-1336. Epub 2020 Apr 27 doi: 10.1080/14656566.2020.1751124. PMID: 32338549
Rare glial tumors.
Soffietti R, Rudà R, Reardon D
Handb Clin Neurol 2016;134:399-415. doi: 10.1016/B978-0-12-802997-8.00024-4. PMID: 26948368
Tuberous sclerosis complex.
DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D
Pediatr Clin North Am 2015 Jun;62(3):633-48. Epub 2015 Apr 11 doi: 10.1016/j.pcl.2015.03.005. PMID: 26022167

Therapy

Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T
Orphanet J Rare Dis 2023 Dec 2;18(1):377. doi: 10.1186/s13023-023-02982-1. PMID: 38042867Free PMC Article
Tuberous sclerosis complex: the past and the future.
De Waele L, Lagae L, Mekahli D
Pediatr Nephrol 2015 Oct;30(10):1771-80. Epub 2014 Dec 23 doi: 10.1007/s00467-014-3027-9. PMID: 25533384
Everolimus.
Hasskarl J
Recent Results Cancer Res 2014;201:373-92. doi: 10.1007/978-3-642-54490-3_23. PMID: 24756805
Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
Józwiak S, Stein K, Kotulska K
Future Oncol 2012 Dec;8(12):1515-23. doi: 10.2217/fon.12.146. PMID: 23231513
Everolimus: in patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
Curran MP
Paediatr Drugs 2012 Feb 1;14(1):51-60. doi: 10.2165/11207730-000000000-00000. PMID: 22136276

Prognosis

Benign Glioma.
Wu PB, Filley AC, Miller ML, Bruce JN
Adv Exp Med Biol 2023;1405:31-71. doi: 10.1007/978-3-031-23705-8_2. PMID: 37452934
A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature.
O'Rawe M, Chandran AS, Joshi S, Simonin A, Dyke JM, Lee S
Childs Nerv Syst 2021 Apr;37(4):1381-1385. Epub 2020 Aug 17 doi: 10.1007/s00381-020-04823-z. PMID: 32808065
Neurological malignancies in neurofibromatosis type 1.
Eoli M, Saletti V, Finocchiaro G
Curr Opin Oncol 2019 Nov;31(6):554-561. doi: 10.1097/CCO.0000000000000576. PMID: 31436563
Rare glial tumors.
Soffietti R, Rudà R, Reardon D
Handb Clin Neurol 2016;134:399-415. doi: 10.1016/B978-0-12-802997-8.00024-4. PMID: 26948368
Tuberous sclerosis complex: the past and the future.
De Waele L, Lagae L, Mekahli D
Pediatr Nephrol 2015 Oct;30(10):1771-80. Epub 2014 Dec 23 doi: 10.1007/s00467-014-3027-9. PMID: 25533384

Clinical prediction guides

Neurological malignancies in neurofibromatosis type 1.
Eoli M, Saletti V, Finocchiaro G
Curr Opin Oncol 2019 Nov;31(6):554-561. doi: 10.1097/CCO.0000000000000576. PMID: 31436563
Characterization of gliomas: from morphology to molecules.
Ferris SP, Hofmann JW, Solomon DA, Perry A
Virchows Arch 2017 Aug;471(2):257-269. Epub 2017 Jul 4 doi: 10.1007/s00428-017-2181-4. PMID: 28674742
Laser interstitial thermal therapy for subependymal giant cell astrocytoma: technical case report.
Dadey DY, Kamath AA, Leuthardt EC, Smyth MD
Neurosurg Focus 2016 Oct;41(4):E9. doi: 10.3171/2016.7.FOCUS16231. PMID: 27690646
The Role of Molecular Diagnostics in the Management of Patients with Gliomas.
Wirsching HG, Weller M
Curr Treat Options Oncol 2016 Oct;17(10):51. doi: 10.1007/s11864-016-0430-4. PMID: 27501915
Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex.
Koenig MK, Butler IJ, Northrup H
J Child Neurol 2008 Oct;23(10):1238-9. doi: 10.1177/0883073808321764. PMID: 18952591Free PMC Article

Recent systematic reviews

TTF-1 immunohistochemistry in primary CNS tumors: A systematic review.
Das S, Ahlawat S, Sarangi J, Panda AK, Jain P, Gupta RK, Vaishya S, Patir R
Clin Neuropathol 2024 Sept./Oct. & Nov./Dec.;43(5 & 6):138-146. doi: 10.5414/NP301642. PMID: 39445381
The Clinicopathological Features of the Solitary Subependymal Giant Cell Astrocytoma: A Systematic Review.
Piña-Ballantyne SA, Espinosa-Aguilar EJ, Calderón-Garcidueñas AL
Neurol India 2024 Jul 1;72(4):708-717. Epub 2024 Aug 31 doi: 10.4103/neurol-india.Neurol-India-D-23-00343. PMID: 39216021
Rapamycin and rapalogs for tuberous sclerosis complex.
Sasongko TH, Kademane K, Chai Soon Hou S, Jocelyn TXY, Zabidi-Hussin Z
Cochrane Database Syst Rev 2023 Jul 11;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub3. PMID: 37432030Free PMC Article
Prevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review.
Andrews LJ, Thornton ZA, Saincher SS, Yao IY, Dawson S, McGuinness LA, Jones HE, Jefferies S, Short SC, Cheng HY, McAleenan A, Higgins JPT, Kurian KM
Neuro Oncol 2022 Apr 1;24(4):528-540. doi: 10.1093/neuonc/noab247. PMID: 34718782Free PMC Article
Rash to the mTOR inhibitor everolimus: systematic review and meta-analysis.
Ramirez-Fort MK, Case EC, Rosen AC, Cerci FB, Wu S, Lacouture ME
Am J Clin Oncol 2014 Jun;37(3):266-71. doi: 10.1097/COC.0b013e318277d62f. PMID: 23241507

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