title: Anaplastic astroblastoma-sarcoma in neurofibromatosis Type 1.
abstract: Astroblastoma is a distinctive brain tumor when its histologic features occur in pure form. More often, the tumor pattern is seen to emerge in infiltrative astrocytic tumors. The former are rare. Astroblastoma as a de novo component of gliosarcoma has not previously been described. Furthermore, astroblastoma has only once been reported to occur in the setting of neurofibromatosis Type I (NF1), a condition more often associated with pilocytic and diffuse or infiltrative astrocytic tumors. Herein, we describe a unique case of anaplastic de novo astroblastoma-sarcoma, in essence a variant of gliosarcoma, occurring in a 50-year-old female with documented NF1. Genetic study (fluorescence in situ hybridization) demonstrated no chromosomal losses or gains. Testing for abnormalities of chromosomes 7, 9, 10, 12, 17, 19 and 20, including the EGFR, p16, PTEN, MDM2 and NF1 gene regions, we found the tumor to exhibit a deletion of PTEN, monosomy 17 and gains of chromosomes 19 and 20q. The latter alterations, having been reported in astroblastoma, were noted in both tumor components, thus confirming the common origin of the glial and sarcomatous elements.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. scheithauer.bernd@mayo.edu
authors.forename: B W
authors.initials: BW
authors.lastname: Scheithauer
authors.forename: A T
authors.initials: AT
authors.lastname: Aker
authors.forename: R P
authors.initials: RP
authors.lastname: Ketterling
authors.forename: A W
authors.initials: AW
authors.lastname: Carlson
authors.forename: R A
authors.initials: RA
authors.lastname: Knudson
authors.forename: M
authors.initials: M
authors.lastname: Tyler
mesh_terms: D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D002869:Chromosome Aberrations; D015897:Comorbidity; D005260:Female; D006801:Humans; D008875:Middle Aged; D018302:Neoplasms, Neuroepithelial / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics; D012509:Sarcoma / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D051059:PTEN Phosphohydrolase