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Exome sequencing of blastic plasmacytoid dendritic cell neoplasms

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive haematological malignancy derived from precursors of plasmacytoid dendritic cells. Due to the rarity of BPDCNs our knowledge of their molecular pathogenesis was until recently confined to observations describing reccurent chromosomal deletions involving chromosomes 5q, 12p, 13q, 6q, 15q and 9. A recent publication went on to delineate the common deleted regions using aCGH and demonstrated that these centred around known tumour suppressor genes including CDKN2A/B (9p21.3), RB1 (12p13.2-14.3), CDKN1B (13q11-q12) and IKZF1 (7p12.2). These mutations are found recurrently in several different cancers and in most cases are thought to be involved in tumour progression rather than initiation. However, the well-defined nature and cellular ontogeny of these neoplasms suggests strongly that they share one or a few characteristic mutations as has been demonstrated for other uncommon but well-defined neoplasms such as Hairy Cell Leukemia (BRAF) and ovarian Granulosa Cell tumours (FOXL2).

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000171 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000120862 bam 6.6 GB
EGAF00000120863 bam 6.5 GB
EGAF00000120864 bam 6.6 GB
EGAF00000120865 bam 6.4 GB
EGAF00000120866 bam 6.9 GB
EGAF00000120867 bam 4.7 GB
EGAF00000120868 bam 4.5 GB
EGAF00000120869 bam 4.3 GB
EGAF00000120870 bam 4.0 GB
EGAF00000120871 bam 4.3 GB
EGAF00000120872 bam 4.7 GB
EGAF00000120873 bam 4.4 GB
EGAF00000120874 bam 5.0 GB
EGAF00000120875 bam 4.7 GB
EGAF00000120876 bam 4.4 GB
EGAF00000120877 bam 4.2 GB
EGAF00000120878 bam 4.0 GB
EGAF00000120879 bam 4.3 GB
EGAF00000120880 bam 4.7 GB
EGAF00000120881 bam 4.4 GB
EGAF00000120882 bam 4.9 GB
EGAF00000121463 bam 4.5 GB
EGAF00000121464 bam 4.3 GB
EGAF00000121465 bam 4.1 GB
EGAF00000121466 bam 3.8 GB
EGAF00000121467 bam 4.1 GB
EGAF00000121468 bam 4.5 GB
EGAF00000121469 bam 4.2 GB
EGAF00000121470 bam 4.8 GB
EGAF00000126708 bam 6.9 GB
EGAF00000126709 bam 6.8 GB
EGAF00000126710 bam 6.9 GB
EGAF00000126711 bam 6.7 GB
EGAF00000126712 bam 7.2 GB
EGAF00000128636 bam 23.0 GB
35 Files (196.5 GB)