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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

Pathology of rhabdoid glioblastoma. (A) A representative H&E picture shows non-cohesive rhabdoid cells with eccentrically located pleomorphic nuclei and eosinophilic globular cytoplasm (H&E, original magnification × 200). (B) GFAP is robustly positive in some, but not all, tumor cells (GFAP immunostaining, original magnification × 200). (C) EMA is strongly positive in a cytoplasmic membrane pattern in almost all tumor cells (EMA immunohistochemistry, original magnification × 200). (D) Cyclin D1 (CCND1) staining is strongly positive in the nuclei of the tumor cells (cyclin D1 immunohistochemistry, original magnification × 200).
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f0005: Pathology of rhabdoid glioblastoma. (A) A representative H&E picture shows non-cohesive rhabdoid cells with eccentrically located pleomorphic nuclei and eosinophilic globular cytoplasm (H&E, original magnification × 200). (B) GFAP is robustly positive in some, but not all, tumor cells (GFAP immunostaining, original magnification × 200). (C) EMA is strongly positive in a cytoplasmic membrane pattern in almost all tumor cells (EMA immunohistochemistry, original magnification × 200). (D) Cyclin D1 (CCND1) staining is strongly positive in the nuclei of the tumor cells (cyclin D1 immunohistochemistry, original magnification × 200).

Mentions: A 20-year-old female patient was seen in an outpatient clinic at Seoul National University Hospital because of headache, nausea, and vomiting in April 2011. Brain magnetic resonance imaging showed a 5-cm sized, well-enhanced mass in the right temporal lobe. The mass also showed diffusion restriction with increased perfusion at the peripheral enhanced portion. She underwent a craniotomy for tumor removal in May 2011. The molecular genetic characteristics of the surgical specimen were evaluated as follows. Immunohistochemical staining revealed focal expression of GFAP and strong expression of EMA and INI-1 (Figure 1). Fluorescence in situ hybridization (FISH) showed no EGFR amplification and no deletion of chromosomes 1p, 9p21, or 19q. In addition, methylation-specific PCR showed hypermethylation of the MGMT promoter, and the MIB-1 labeling index was measured as 36.5% with an Aperio Spectrum plus image analyzer. The study patient received adjuvant concurrent chemoradiotherapy with oral temozolomide treatment after the surgery. However, the tumor recurred on the ipsilateral side of the frontal lobe, and she underwent a second operation to remove the recurrent tumor. The final pathology confirmed that, as with the initial mass, the recurrent tumor was an R-GBM. The recurrent tumor had a MIB-1 labeling index of 37.5%. She has been free from disease for 25 months as of December 2013. The study protocol was reviewed and approved by the institutional review board of the Seoul National University Hospital, and informed consent was obtained from the study patient. The recommendations of the Declaration of Helsinki for biomedical research involving human subjects were followed.


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)

Pathology of rhabdoid glioblastoma. (A) A representative H&E picture shows non-cohesive rhabdoid cells with eccentrically located pleomorphic nuclei and eosinophilic globular cytoplasm (H&E, original magnification × 200). (B) GFAP is robustly positive in some, but not all, tumor cells (GFAP immunostaining, original magnification × 200). (C) EMA is strongly positive in a cytoplasmic membrane pattern in almost all tumor cells (EMA immunohistochemistry, original magnification × 200). (D) Cyclin D1 (CCND1) staining is strongly positive in the nuclei of the tumor cells (cyclin D1 immunohistochemistry, original magnification × 200).
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

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

f0005: Pathology of rhabdoid glioblastoma. (A) A representative H&E picture shows non-cohesive rhabdoid cells with eccentrically located pleomorphic nuclei and eosinophilic globular cytoplasm (H&E, original magnification × 200). (B) GFAP is robustly positive in some, but not all, tumor cells (GFAP immunostaining, original magnification × 200). (C) EMA is strongly positive in a cytoplasmic membrane pattern in almost all tumor cells (EMA immunohistochemistry, original magnification × 200). (D) Cyclin D1 (CCND1) staining is strongly positive in the nuclei of the tumor cells (cyclin D1 immunohistochemistry, original magnification × 200).
Mentions: A 20-year-old female patient was seen in an outpatient clinic at Seoul National University Hospital because of headache, nausea, and vomiting in April 2011. Brain magnetic resonance imaging showed a 5-cm sized, well-enhanced mass in the right temporal lobe. The mass also showed diffusion restriction with increased perfusion at the peripheral enhanced portion. She underwent a craniotomy for tumor removal in May 2011. The molecular genetic characteristics of the surgical specimen were evaluated as follows. Immunohistochemical staining revealed focal expression of GFAP and strong expression of EMA and INI-1 (Figure 1). Fluorescence in situ hybridization (FISH) showed no EGFR amplification and no deletion of chromosomes 1p, 9p21, or 19q. In addition, methylation-specific PCR showed hypermethylation of the MGMT promoter, and the MIB-1 labeling index was measured as 36.5% with an Aperio Spectrum plus image analyzer. The study patient received adjuvant concurrent chemoradiotherapy with oral temozolomide treatment after the surgery. However, the tumor recurred on the ipsilateral side of the frontal lobe, and she underwent a second operation to remove the recurrent tumor. The final pathology confirmed that, as with the initial mass, the recurrent tumor was an R-GBM. The recurrent tumor had a MIB-1 labeling index of 37.5%. She has been free from disease for 25 months as of December 2013. The study protocol was reviewed and approved by the institutional review board of the Seoul National University Hospital, and informed consent was obtained from the study patient. The recommendations of the Declaration of Helsinki for biomedical research involving human subjects were followed.

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