Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma.
The large cell (LC) subtype is a recently described histologic variant of medulloblastoma (Mb) associated with a rapid and aggressive clinical course. We describe the genomic profile of a LC-Mb tumor obtained from a patient who developed recurrent and fulminant disease despite 'good-risk' features at diagnosis and state- of-the-art multidisciplinary therapy. The tumor sample was analyzed using comparative genomic hybridization (CGH) and complementary molecular approaches. CGH revealed amplicons at chromosome bands 2p24-25, 2q12-22, and 17p11; losses of chromosomes 11q and 18; and low-level gains of 3q, 11p, 13q and 14q. Southern blot analysis confirmed N-myc amplification. No evidence of p53 mutation was detected. The genomic profile of this LC-Mb tumor sample revealed a distinctive pattern of genetic alterations including amplification of N-myc and anonymous oncogenes at chromosome bands 2q12-22 and 17p11. These genomic abnormalities are uncommon in other subtypes of Mb.
Reardon
D A
DA
Department of Hematology/Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA. reardd@mail.mmc.org
Jenkins
J J
JJ
Sublett
J E
JE
Burger
P C
PC
Kun
L K
LK
D015139:Blotting, Southern; D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D015342:DNA Probes; D017809:Fatal Outcome; D005260:Female; D016259:Genes, myc / Q000235:genetics*; D015726:Giant Cells; D006801:Humans; D008527:Medulloblastoma / Q000235:genetics* / Q000473:pathology; D009693:Nucleic Acid Hybridization / Q000235:genetics*
D015342:DNA Probes