Limits...
Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing.

Koh Y, Park I, Sun CH, Lee S, Yun H, Park CK, Park SH, Park JK, Lee SH - Transl Oncol (2015)

Bottom Line: We found loss of heterozygosity and focal homozygous deletion on 9q21, which includes CDKN2A and CDKN2B.These simultaneous alterations are very rarely found in GBM.We observed a unique genomic signature in R-GBM compared to conventional GBM, which may provide insight regarding R-GBM as a distinct disease entity among the larger group of GBMs.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea; Cancer Research Institute, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-799, Korea.

No MeSH data available.


Related in: MedlinePlus

Copy number status of R-GBM. (A) Gross copy number changes, (B) variant allele frequency in the tumor sample, and (C) variant allele frequency in the normal sample.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4562980&req=5

f0010: Copy number status of R-GBM. (A) Gross copy number changes, (B) variant allele frequency in the tumor sample, and (C) variant allele frequency in the normal sample.

Mentions: Gains were identified in chromosomes 3, 7, and 9 from the SNP array and WES data (Figure 2). Interestingly, chromosome 9 showed a homozygous deletion of the 9p21 locus that contains the tumor suppressor genes CDKN2A and CDKN2B (Figure 2B).


Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing.

Koh Y, Park I, Sun CH, Lee S, Yun H, Park CK, Park SH, Park JK, Lee SH - Transl Oncol (2015)

Copy number status of R-GBM. (A) Gross copy number changes, (B) variant allele frequency in the tumor sample, and (C) variant allele frequency in the normal sample.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4562980&req=5

f0010: Copy number status of R-GBM. (A) Gross copy number changes, (B) variant allele frequency in the tumor sample, and (C) variant allele frequency in the normal sample.
Mentions: Gains were identified in chromosomes 3, 7, and 9 from the SNP array and WES data (Figure 2). Interestingly, chromosome 9 showed a homozygous deletion of the 9p21 locus that contains the tumor suppressor genes CDKN2A and CDKN2B (Figure 2B).

Bottom Line: We found loss of heterozygosity and focal homozygous deletion on 9q21, which includes CDKN2A and CDKN2B.These simultaneous alterations are very rarely found in GBM.We observed a unique genomic signature in R-GBM compared to conventional GBM, which may provide insight regarding R-GBM as a distinct disease entity among the larger group of GBMs.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea; Cancer Research Institute, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-799, Korea.

No MeSH data available.


Related in: MedlinePlus