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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
Pusateri A, Margo CE
Arch Pathol Lab Med 2014 Sep;138(9):1250-4. doi: 10.5858/arpa.2013-0448-RS. PMID: 25171711
Józwiak S, Stein K, Kotulska K
Future Oncol 2012 Dec;8(12):1515-23. doi: 10.2217/fon.12.146. PMID: 23231513

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
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
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
Hasskarl J
Recent Results Cancer Res 2018;211:101-123. doi: 10.1007/978-3-319-91442-8_8. PMID: 30069763
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

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
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
Pusateri A, Margo CE
Arch Pathol Lab Med 2014 Sep;138(9):1250-4. doi: 10.5858/arpa.2013-0448-RS. PMID: 25171711

Therapy

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
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
Turner SG, Peters KB, Vredenburgh JJ, Desjardins A, Friedman HS, Reardon DA
Expert Opin Pharmacother 2011 Oct;12(14):2265-9. Epub 2011 Aug 1 doi: 10.1517/14656566.2011.601742. PMID: 21806479Free PMC Article

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
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
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
Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA
Neurosurgery 1991 Jun;28(6):864-8. PMID: 2067610

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
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
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

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