Study

CCND1-negative MCL

Study ID Alternative Stable ID Type
EGAS00001003060 Other

Study Description

A subset of CCND1-negative mantle cell lymphoma MCL (CCND1- MCL) has been recognized, and around half of them harbor CCND2 translocations. To identify other potential mechanisms driving MCL pathogenesis we investigated CCND1− MCL by by whole genome/exome sequencing. We identified a cryptic insertion of IGK and IGL enhancer regions near the CCND3 gene in three cases. Specific FISH probes detected 10 additional cryptic IGK juxtapositions to CCND3 (6 cases) and CCND2 (4 cases). In conclusion, virtually all CCND1-/SOX11+ MCL carry CCND2/CCND3 rearrangement with IG genes, including cryptic IGK/L enhancer regions not detected with currently used FISH probes.

Study Datasets 3 datasets.

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Dataset ID Description Technology Samples
EGAD00001004161
BAM files from 5 CCND1-negative MCL cases. 4 BAM files corresponded to long insert size Mate Pair-WGS and 3 to WES. In 2 of the cases both technologies were performed.
Illumina HiSeq 2000 7
EGAD00010001581
Copy Number Alterations arrays from 21 patients and 24 samples performed by Affymetrix 6.0, Agilent 1M and Oncoscan CNV platforms
Affymetrix 6.0; Agilent 1M; Oncoscan CNV 24
EGAD00010001582
Gene Expression Profiling from 21 cases: 14 CCND1-negative Mantle Cell Lymphoma and 7 CCND1-positive Mantle Cell Lymphoma
Genechip Human Genome U133 Plus 2.0 array 21

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