Document Detail


Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.
MedLine Citation:
PMID:  22160402     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Focal high-level amplifications of MYC (or MYCC) define a subset of high-risk medulloblastoma patients. However, the prognostic role of MYCN oncogene amplification remains unresolved. We aimed to evaluate the prognostic value of this alteration alone and in combination with biological modifiers in 67 pediatric medulloblastomas with MYCN amplification (MYCN-MB). Twenty-one MYCN-MB were examined using gene expression profiling and array-CGH, whereas for 46 tumors immunohistochemical analysis and FISH were performed. All 67 tumors were further subjected to mutational analyses. We compared molecular, clinical, and prognostic characteristics both within biological MYCN-MB groups and with non-amplified tumors. Transcriptomic analysis revealed SHH-driven tumorigenesis in a subset of MYCN-MBs indicating a biological dichotomy of MYCN-MB. Activation of SHH was accompanied by variant-specific cytogenetic aberrations including deletion of 9q in SHH tumors. Non-SHH MB were associated with gain of 7q and isochromosome 17q/17q gain. Among clinically relevant variables, SHH subtype and 10q loss for non-SHH tumors comprised the most powerful markers of favorable prognosis in MYCN-MB. In conclusion, we demonstrate considerable heterogeneity within MYCN-MB in terms of genetics, tumor biology, and clinical outcome. Thus, assessment of disease group and 10q copy-number status may improve risk stratification of this group and may delineate MYCN-MB with the same dismal prognosis as MYC amplified tumors. Furthermore, based on the enrichment of MYCN and GLI2 amplifications in SHH-driven medulloblastoma, amplification of these downstream signaling intermediates should be taken into account before a patient is enrolled into a clinical trial using a smoothened inhibitor.
Authors:
Andrey Korshunov; Marc Remke; Marcel Kool; Thomas Hielscher; Paul A Northcott; Dan Williamson; Elke Pfaff; Hendrik Witt; David T W Jones; Marina Ryzhova; Yoon-Jae Cho; Andrea Wittmann; Axel Benner; William A Weiss; Andreas von Deimling; Wolfram Scheurlen; Andreas E Kulozik; Steven C Clifford; V Peter Collins; Frank Westermann; Michael D Taylor; Peter Lichter; Stefan M Pfister
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-9
Journal Detail:
Title:  Acta neuropathologica     Volume:  -     ISSN:  1432-0533     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0412041     Medline TA:  Acta Neuropathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Neuropathology, University of Heidelberg, Heidelberg, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The major facilitator superfamily-type protein LbtC promotes the utilization of the legiobactin side...
Next Document:  Exercise-induced right ventricular dysfunction and structural remodelling in endurance athletes.