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| Status |
Public on Jul 06, 2015 |
| Title |
Disseminated medulloblastoma in a child with germline BRCA2 6174delT mutation and without Fanconi anemia |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
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| Summary |
We describe an 8 year old child who had disseminated anaplastic medulloblastoma and a deleterious heterozygous BRCA2 6174delT germline mutation. Molecular profiling was consistent with Group 4 medulloblastoma. The posterior fossa mass was resected and the patient received intensive chemotherapy and craniospinal irradiation. Despite this, the patient succumbed to a second recurrence of his medulloblastoma, which presented eight months after diagnosis as malignant pleural and peritoneal effusions. Continuous medulloblastoma cell lines were isolated from the original tumor (CHLA-01-MED) and the malignant pleural effusion (CHLA-01R-MED). Here we provide their analyses, including in vitro and in vivo growth, drug sensitivity, comparative genomic hybridization and next generation sequencing analysis. In addition to the BRCA2 6174delT, the medulloblastoma cells had amplification of MYC, deletion at Xp11.2 and isochromosome 17, but no structural variations or overexpression of GFI1 or GFI1B. To our knowledge, this is the first pair of diagnosis/recurrence medulloblastoma cell lines, the only medulloblastoma cell lines with BRCA2 6174delT described to date, and the first reported case of a child with medulloblastoma associated with a germline BRCA2 6174delT who did not also have Fanconi anemia.
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| Overall design |
Continuous medulloblastoma cell lines were isolated from the original tumor (CHLA-01-MED) and the malignant pleural effusion (CHLA-01R-MED). Here we provide their analyses, including in vitro and in vivo growth, drug sensitivity, comparative genomic hybridization with Agilent 400k CGH arrays and whole transcriptome RNASeq analysis.
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| Contributor(s) |
Xu J, Margol A, Asgharzadeh S, Gilles FH, Krieger MD, Finlay JL, Aziz M, Couch FJ, Fung ET, Shukla A, Barrett MT, Erdreich-Epstein A |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
Jun 18, 2015 |
| Last update date |
Jul 06, 2015 |
| Contact name |
Michael Thomas Barrett |
| E-mail(s) |
barrett.michael@mayo.edu
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| Phone |
480-301-6736
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| Organization name |
Mayo Clinic Arizona
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| Department |
Molecular Pharmacology and Experimental Therapeutics
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| Street address |
13400 East Shea Boulevard
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| City |
Scottsdale |
| State/province |
AZ |
| ZIP/Postal code |
85259 |
| Country |
USA |
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| Platforms (1) |
| GPL19387 |
Agilent-021850 SurePrint G3 Human CGH Microarray (Probe Name version) |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA287447 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE70003_Normalized_data_with_annotation.txt.gz |
12.8 Mb |
(ftp)(http) |
TXT |
| GSE70003_RAW.tar |
86.3 Mb |
(http)(custom) |
TAR (of TXT) |
| Processed data included within Sample table |
| Processed data are available on Series record |
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