title: Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.
abstract: OBJECTIVE
  Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. The aim of this work was to establish the incidence, clinical features, and outcome of congenital SEGA in TSC patients.
  
  
  METHODS
  Cohort of 452 TSC patients was reviewed to identify cases with growing or hydrocephalus producing SEGAs in the first 3 months of life. Clinical presentation, size of the tumor, growth rate, mutational analysis, treatment applied, and outcome were analyzed.
  
  
  RESULTS
  Ten (2.2 %) patients presented with SEGA in the first 3 months of life. All of them had documented SEGA growth and all developed hydrocephalus. In eight patients, mutational analysis was done, and in all of them, TSC2 gene mutations were identified. Mean maximum SEGA diameter at baseline was 21.8 mm. Mean SEGA growth rate observed postnatally was 2.78 mm per month and tended to be higher (5.43 mm per month) in patients with TSC2/PKD1 mutation than in other cases. Seven patients underwent SEGA surgery and surgery-related complications were observed in 57.1 % cases. One patient was successfully treated with everolimus as a primary treatment.
  
  
  CONCLUSIONS
  Congenital SEGA develops 2.2 % of TSC patients. Patients with TSC2 mutations, and especially with TSC2/PKD1 mutations, are more prone to develop SEGA earlier in childhood and should be screened for SEGA from birth. In young infants with SEGA, both surgery and mTOR inhibitor should be considered as a treatment option.
authors.affiliation: Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland, k.kotulska@ipczd.pl.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kotulska
authors.forename: Julita
authors.initials: J
authors.lastname: Borkowska
authors.forename: Marek
authors.initials: M
authors.lastname: Mandera
authors.forename: Marcin
authors.initials: M
authors.lastname: Roszkowski
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Jurkiewicz
authors.forename: Wiesława
authors.initials: W
authors.lastname: Grajkowska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Bilska
authors.forename: Sergiusz
authors.initials: S
authors.lastname: Jóźwiak
mesh_terms: D001254:Astrocytoma / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003399:Craniotomy; D004252:DNA Mutational Analysis; D000068338:Everolimus; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D009460:Neurologic Examination; D011044:Poland; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020123:Sirolimus / Q000031:analogs & derivatives / Q000627:therapeutic use; D050396:TRPP Cation Channels / Q000235:genetics; D014402:Tuberous Sclerosis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D000068338:Everolimus; D020123:Sirolimus; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human