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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, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

Professional guidelines

PubMed

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
Wirsching HG, Weller M
Curr Treat Options Oncol 2016 Oct;17(10):51. doi: 10.1007/s11864-016-0430-4. PMID: 27501915
Pusateri A, Margo CE
Arch Pathol Lab Med 2014 Sep;138(9):1250-4. doi: 10.5858/arpa.2013-0448-RS. PMID: 25171711

Recent clinical studies

Etiology

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
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
Desai VR, Jenson AV, Hoverson E, Desai RM, Boghani Z, Lee MR
Childs Nerv Syst 2020 Nov;36(11):2685-2691. Epub 2020 May 28 doi: 10.1007/s00381-020-04638-y. PMID: 32468241
Eoli M, Saletti V, Finocchiaro G
Curr Opin Oncol 2019 Nov;31(6):554-561. doi: 10.1097/CCO.0000000000000576. PMID: 31436563
Hasskarl J
Recent Results Cancer Res 2018;211:101-123. doi: 10.1007/978-3-319-91442-8_8. PMID: 30069763

Diagnosis

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
Strowd RE 3rd, Plotkin SR
Continuum (Minneap Minn) 2020 Dec;26(6):1523-1552. doi: 10.1212/CON.0000000000000950. PMID: 33273171
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
Islam MP, Roach ES
Handb Clin Neurol 2015;132:97-109. doi: 10.1016/B978-0-444-62702-5.00006-8. PMID: 26564073
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

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
Wang D, Eisen HJ
Handb Exp Pharmacol 2022;272:53-72. doi: 10.1007/164_2021_553. PMID: 35091825
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
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
Hasskarl J
Recent Results Cancer Res 2014;201:373-92. doi: 10.1007/978-3-642-54490-3_23. PMID: 24756805

Prognosis

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
Eoli M, Saletti V, Finocchiaro G
Curr Opin Oncol 2019 Nov;31(6):554-561. doi: 10.1097/CCO.0000000000000576. PMID: 31436563
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
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
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

Almubarak AO, Abdullah J, Al Hindi H, AlShail E
Neurosciences (Riyadh) 2020 Jan;25(1):61-64. doi: 10.17712/nsj.2020.1.20190044. PMID: 31982898Free PMC Article
Eoli M, Saletti V, Finocchiaro G
Curr Opin Oncol 2019 Nov;31(6):554-561. doi: 10.1097/CCO.0000000000000576. PMID: 31436563
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
Wirsching HG, Weller M
Curr Treat Options Oncol 2016 Oct;17(10):51. doi: 10.1007/s11864-016-0430-4. PMID: 27501915
Wong M, Crino PB
Glia 2012 Aug;60(8):1244-50. Epub 2012 Mar 21 doi: 10.1002/glia.22326. PMID: 22438024

Recent systematic reviews

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
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
Ebel F, Greuter L, Guzman R, Soleman J
Neurosurg Rev 2022 Oct;45(5):3109-3118. Epub 2022 Jul 27 doi: 10.1007/s10143-022-01837-w. PMID: 35896917Free PMC Article
Sasongko TH, Ismail NF, Zabidi-Hussin Z
Cochrane Database Syst Rev 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. PMID: 27409709Free PMC Article
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

Supplemental Content

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