PMID- 37327147
OWN - NLM
STAT- Publisher
LR  - 20230901
IS  - 1933-0715 (Electronic)
IS  - 1933-0707 (Linking)
VI  - 32
IP  - 3
DP  - 2023 Sep 1
TI  - Subependymal giant-cell astrocytomas in the absence of tuberous sclerosis.
PG  - 351-357
LID - 10.3171/2023.5.PEDS23108 [doi]
AB  - OBJECTIVE: Tuberous sclerosis is a rare genetic condition caused by TSC1 or TSC2 
      mutations that can be inherited, sporadic, or the result of somatic mosaicism. 
      Subependymal giant-cell astrocytoma (SEGA) is a major diagnostic feature of 
      tuberous sclerosis complex (TSC). This study aimed to present a series of cases 
      in which a pathological diagnosis of SEGA was not diagnostic of tuberous 
      sclerosis. METHODS: The authors retrospectively reviewed a clinical case series 
      of 5 children who presented with a SEGA tumor to Johns Hopkins All Children's 
      Hospital and St. Louis Children's Hospital between 2010 and 2022 and whose 
      initial genetic workup was negative for tuberous sclerosis. All patients were 
      treated with craniotomy for SEGA resection. TSC genetic testing was performed on 
      all SEGA specimens. RESULTS: The children underwent open frontal craniotomy for 
      SEGA resection from the ages of 10 months to 14 years. All cases demonstrated the 
      classic imaging features of SEGA. Four were centered at the foramen of Monro and 
      1 in the occipital horn. One patient presented with hydrocephalus, 1 with 
      headaches, 1 with hand weakness, 1 with seizures, and 1 with tumor hemorrhage. 
      Somatic TSC1 mutation was present in the SEGA tumors of 2 patients and TSC2 
      mutation in 1 patient. Germline TSC mutation testing was negative for all 5 
      cases. No patient had other systemic findings of tuberous sclerosis on 
      ophthalmological, dermatological, neurological, renal, or cardiopulmonary 
      assessments and thus did not meet the clinical criteria for tuberous sclerosis. 
      The average follow-up was 6.7 years. Recurrence was noted in 2 cases, in which 1 
      patient underwent radiosurgery and 1 was started on a mammalian target of 
      rapamycin (mTOR) inhibitor (rapamycin). CONCLUSIONS: There may be intracranial 
      implications of somatic mosaicism associated with tuberous sclerosis. Children 
      who are diagnosed with SEGA do not necessarily have a diagnosis of tuberous 
      sclerosis. Tumors may carry a TSC1 or TSC2 mutation, but germline testing can be 
      negative. These children should continue to be followed with serial cranial 
      imaging for tumor progression, but they may not require the same long-term 
      monitoring as patients who are diagnosed with germline TSC1 or TSC2 mutations.
FAU - Reynolds, Rebecca A
AU  - Reynolds RA
AD  - 1Division of Pediatric Neurosurgery, Johns Hopkins All Children's Hospital, St. 
      Petersburg, Florida.
FAU - Aum, Diane J
AU  - Aum DJ
AD  - Departments of2Neurosurgery.
FAU - Gonzalez-Gomez, Ignacio
AU  - Gonzalez-Gomez I
AD  - 3Department of Pathology, Johns Hopkins All Children's Hospital, St. Petersburg, 
      Florida.
FAU - Wong, Michael
AU  - Wong M
AD  - 4Neurology, and.
FAU - Roberts, Kaleigh
AU  - Roberts K
AD  - 5Pathology, Washington University in St. Louis, St. Louis, Missouri; and.
FAU - Dahiya, Sonika
AU  - Dahiya S
AD  - 5Pathology, Washington University in St. Louis, St. Louis, Missouri; and.
FAU - Rodriguez, Luis F
AU  - Rodriguez LF
AD  - 1Division of Pediatric Neurosurgery, Johns Hopkins All Children's Hospital, St. 
      Petersburg, Florida.
FAU - Roland, Jarod L
AU  - Roland JL
AD  - Departments of2Neurosurgery.
FAU - Smyth, Matthew D
AU  - Smyth MD
AD  - 1Division of Pediatric Neurosurgery, Johns Hopkins All Children's Hospital, St. 
      Petersburg, Florida.
LA  - eng
PT  - Journal Article
DEP - 20230609
PL  - United States
TA  - J Neurosurg Pediatr
JT  - Journal of neurosurgery. Pediatrics
JID - 101463759
SB  - IM
OTO - NOTNLM
OT  - SEGA
OT  - TSC1
OT  - TSC2
OT  - genetics
OT  - mutation
OT  - oncology
OT  - solitary
OT  - tuberous sclerosis
EDAT- 2023/06/16 19:16
MHDA- 2023/06/16 19:16
CRDT- 2023/06/16 13:13
PHST- 2023/03/09 00:00 [received]
PHST- 2023/05/01 00:00 [accepted]
PHST- 2023/06/16 19:16 [pubmed]
PHST- 2023/06/16 19:16 [medline]
PHST- 2023/06/16 13:13 [entrez]
AID - 10.3171/2023.5.PEDS23108 [doi]
PST - epublish
SO  - J Neurosurg Pediatr. 2023 Jun 9;32(3):351-357. doi: 10.3171/2023.5.PEDS23108. 
      Print 2023 Sep 1.