Study
Exome and RNA sequencing data from 32 ocular and extraocular sebaceous carcinomas
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001002869 | Other |
Study Description
Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare cases, metastasize and prove fatal. Here we report whole exome sequencing on 32 SeC, revealing distinct mutational classes that explain both cancer ontogeny and clinical course. A UV-damage signature predominated 10/32 samples, while 9 were instead defined by microsatellite instability (MSI) mutations. UV-damage SeC exhibited poorly differentiated, infiltrative histopathologycompared to MSI signature SeC (p = 0.003), features previously associated with dissemination. Strikingly, UV-damage SeC transcriptomes and anatomic distributionclosely resembling those of cutaneous squamous cell carcinomas (SCC), implicating sun-exposed keratinocytes as a cell of origin. Like SCC, this UV-damage subclass harbors a high somatic mutation burden with >50 mutations/Mb, predicting immunotherapeutic response. In contrast, ocular SeC acquire far fewer mutations without a dominant signature, but show frequent truncating mutations in the ZNF750 epidermal differentiation regulator. Our data exemplify how different mutational processes ... (Show More)
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001004016 |
Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare
cases, metastasize and prove fatal. Here we report whole exome
sequencing on 32 SeC, revealing distinct mutational classes that
explain both cancer ontogeny and clinical course. A UV-damage
signature predominated 10/32 samples, while 9 were instead defined by
microsatellite instability (MSI) mutations. UV-damage SeC exhibited
poorly differentiated, infiltrative histopathologycompared to MSI
signature SeC (p = 0.003), features ... (Show More)
|
Illumina HiSeq 2500 | 79 |
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