title: Astrocytic tumor with large cells and worrisome features in two patients with tuberous sclerosis: drastically different diagnoses and prognoses.
abstract: BACKGROUND
  Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease, characterized by the development of benign tumors in several organs. During infancy, 6 - 20% of patients develop brain tumors called subependymal giant cell astrocytoma (SEGA).
  
  
  METHODS
  Here we present two patients with TSC, who displayed acute intracranial tumors requiring surgery. Although both tumors shared similar histological aspects with large astrocytic cells and worrisome features, immunohistochemical and genetic analysis successfully distinguished an opposite diagnosis for the two patients. .
authors.forename: Thomas
authors.initials: T
authors.lastname: Roux
authors.forename: Isabelle
authors.initials: I
authors.lastname: An-Gourfinkel
authors.forename: Anne
authors.initials: A
authors.lastname: Bertrand
authors.forename: Franck
authors.initials: F
authors.lastname: Bielle
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000328:Adult; D001253:Astrocytes / Q000473:pathology*; D001254:Astrocytoma / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D014408:Biomarkers, Tumor / Q000235:genetics; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D002869:Chromosome Aberrations; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics*; D005909:Glioblastoma / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000473:pathology* / Q000628:therapy
chemical_list: D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; C504003:TTF1 protein, human; D014157:Transcription Factors; D000251:Adenosine Triphosphatases; C477874:TTF2 protein, human