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Series GSE4747 Query DataSets for GSE4747
Status Public on Sep 09, 2006
Title Somatic Activation of KIT in Distinct Subtypes of Melanoma
Organism Homo sapiens
Experiment type Genome variation profiling by genome tiling array
Summary Melanomas on mucosal membranes, acral skin (soles, palms, and nail bed), and skin with chronic sun-induced damage have infrequent mutations in BRAF and NRAS, genes within the mitogenactivated protein (MAP) kinase pathway commonly mutated in melanomas on intermittently sun-exposed skin. This raises the question of whether other aberrations are occurring in the MAP kinase cascade in the melanoma types with infrequent mutations of BRAF and NRAS.

Oncogenic mutations in KIT were found in three of seven tumors with amplifications. Examination of all 102 primary melanomas found mutations and/or copy number increases of KIT in 39% ofmucosal, 36% of acral, and 28% of melanomas on chronically sun-damaged skin, but not in any (0%) melanomas on skin without chronic sun damage. Seventy-nine percent of tumors with mutations and 53% of tumors with multiple copies of KIT demonstrated increased KIT protein levels.
KIT is an important oncogene in melanoma. Because the majority of the KIT mutations we found in melanoma also occur in imatinib-responsive cancers of other types, imatinib may offer an immediate therapeutic benefit for a significant proportion of the global melanoma burden.
Keywords: melanoma, oncogene, comparative genomic hybridization, KIT
Overall design We analyzed array comparative genomic hybridization data from 102 primary melanomas (38 from mucosa, 28 from acral skin, and 18 from skin with and 18 from skin without chronic sun-induced damage) for DNA copy number aberrations specific to melanoma subtypes where mutations in BRAF and NRAS are infrequent. A narrow amplification on 4q12 was found, and candidate genes within it were analyzed.
Contributor(s) Curtin JA, Busam K, Pinkel D, Bastian BC
Citation(s) 16908931
Submission date May 01, 2006
Last update date Mar 16, 2012
Contact name Boris Bastian
Phone 415-476-5132
Fax 415-476-8218
Organization name UCSF Cancer Center
Department Laboratory Medicine
Street address
City San Francisco
State/province CA
ZIP/Postal code 94143-0808
Country USA
Platforms (1)
GPL2024 UCSF_HumArray
Samples (16)
GSM126878 AM157
GSM126879 am203
GSM126880 AM204
BioProject PRJNA95693

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Supplementary file Size Download File type/resource
GSE4747_HA1.14_clonepos_May04.20060811.txt 300.8 Kb (ftp)(http) TXT
GSE4747_HA1.14_spotclone.20060809.txt 301.3 Kb (ftp)(http) TXT
GSE4747_HA3.1_clonepos_May04.20060811.txt 299.1 Kb (ftp)(http) TXT
GSE4747_HA3.1_spotclone.20060807.txt 280.0 Kb (ftp)(http) TXT
GSE4747_RAW.tar 108.8 Mb (http)(custom) TAR (of TIFF)

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