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| Status |
Public on Mar 31, 2015 |
| Title |
Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma (aCGH) |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
Genome variation profiling by genome tiling array
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| Summary |
Endometrial stromal sarcomas (ESSs) are a genetically heterogeneous group of rare uterine neoplasms that are frequently driven by recurrent gene rearrangements. In conventional low-grade ESSs, JAZF1-SUZ12, PHF1-JAZF1, EPC1-PHF1 and MEAF6-PHF1 chimeric fusions have been reported in > 50% of cases. The recently described t(10;17)(q22;p13) translocation yields YWHAE-FAM22A/B chimeric proteins that are associated with histologically high-grade and clinically more aggressive ESS.
Integrating whole-transcriptome paired-end RNA sequencing with fluorescence in situ hybridization (FISH) and conventional cytogenetics, we identified MBTD1 (Malignant Brain Tumor Domain-containing 1) and CXorf67 (Chromosome X open reading frame 67) as the genes involved in the novel reciprocal t(X;17)(p11.2;q21.33) translocation in two independent low-grade ESS of classical histology. The presence of the MBTD1-CXorf67 fusion transcript was validated in both cases using RT-PCR followed by Sanger sequencing.
A specific FISH assay to be used on paraffin tissues was developed to detect the novel t(X;17) translocation, and resulted in identification of an additional low-grade ESS case positive for the MBTD1-CXorf67 fusion among 14 uterine stromal tumours [9 ESSs and 5 undifferentiated endometrial sarcomas (UESs)] that were negative for JAZF1 and YWHAE rearrangements.
Gene expression profiles of 3 ESSs with YWHAE- and 4 classical ESSs with JAZF1-rearrangements, and 4 UESs without known gene rearrangements, indicated clustering of tumours with MBTD1-CXorf67 fusion together with low-grade JAZF1-associated ESSs.
The chimeric MBTD1-CXorf67 fusion identifies yet another cytogenetically distinct subgroup of low-grade ESS and offers the opportunity to shed light on the functions of two poorly characterized genes.
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| Overall design |
Genomic DNA extracted from 2 low-grade ESS frozen tumor samples; Agilent CGH+SNP 4x180K array. Reference female DNA supplied with the SureTag Complete DNA Labeling Kit was used for the aCGH experiments.
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| Contributor(s) |
Dewaele B, Przybyl J, Quattrone A, Finalet-Ferreiro J, Vanspauwen V, Geerdens E, Gianfelici V, Kalender Z, Wozniak A, Moerman P, Sciot R, Croce S, Amant F, Vandenberghe P, Cools J, Debiec-Rychter M |
| Citation(s) |
23959973 |
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| Submission date |
Apr 22, 2013 |
| Last update date |
Aug 08, 2016 |
| Contact name |
Joanna Przybyl |
| E-mail(s) |
[email protected]
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| Organization name |
Stanford University
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| Department |
Department of Pathology
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| Street address |
300 Pasteur Drive
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| City |
Stanford |
| ZIP/Postal code |
94305 |
| Country |
USA |
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| Platforms (1) |
| GPL11358 |
Agilent-029830 Human Genome CGH + SNP Microarray (Feature Number version) |
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| Samples (2) |
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| This SubSeries is part of SuperSeries: |
| GSE46285 |
Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma |
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| Relations |
| BioProject |
PRJNA198519 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE46284_RAW.tar |
37.5 Mb |
(http)(custom) |
TAR (of TXT) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
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