Genomic

Dataset Information

0

Genetic Analysis of Desmoplastic Melanoma


ABSTRACT:

Desmoplastic melanoma is an infrequent variant of melanoma with sarcomatous histology, distinct clinical behavior, and unknown pathogenesis. We performed low-coverage genome and high-coverage exome sequencing of 20 desmoplastic melanomas, followed by targeted sequencing of 293 genes to validate candidate genes. A high mutation burden (median 62 mutations/Mb) ranked desmoplastic melanoma among the most highly mutated cancers. Mutation patterns strongly implicate UV-radiation as the dominant mutagen, indicating a superficially located cell of origin. Novel alterations included recurrent promoter mutations of NF-kappa B inhibitor epsilon, NFKBIE (IkBε) in 14.5% of samples. Commonly mutated oncogenes in melanomas, in particular BRAF(V600E) and NRAS(Q61K/R), were absent. Instead, other genetic alterations known to activate the MAPK and PI3K signaling cascades were identified in 73% of samples, affecting NF1, CBL, ERBB2, MAP2K1, MAP3K1, BRAF, EGFR, PTPN11, MET, RAC1, SOS2, NRAS, and PIK3CA, some of which being candidates for targeted therapies.

Reprinted from:
Shain, A. H. et al. Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway. Nat. Genet.
With permission from Nature Genetics

PROVIDER: phs000977 | dbGaP |

SECONDARY ACCESSION(S): PRJNA293389PRJNA293390

REPOSITORIES: dbGaP

Similar Datasets

2014-12-03 | E-GEOD-61992 | biostudies-arrayexpress
2014-12-03 | GSE61992 | GEO
2006-09-09 | GSE4747 | GEO
2016-07-03 | E-MTAB-4097 | biostudies-arrayexpress
2011-10-12 | E-GEOD-32907 | biostudies-arrayexpress
2022-04-12 | GSE154116 | GEO
2022-04-12 | GSE154115 | GEO
2022-04-12 | GSE154114 | GEO
2022-04-12 | GSE154113 | GEO
2018-04-18 | GSE111140 | GEO