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Metastatic melanoma is an aggressive treatment-refractory malignancy. Recently, c-Kit mutations were discovered in certain mucosal melanomas. A clinical trial was initiated with the c-Kit inhibitor imatinib mesylate. The first treated patient experienced dramatic clinical improvement within days, f...
ORGANISM(S): Homo sapiens 

Mucosal melanoma is a deadly disease that carries the worst prognosis amongst subtypes of melanoma. Like all melanomas, mucosal melanomas are frequently driven by activating mutations in the MAPK and/or PI3K pathways; however, unlike melanomas that arise on sun-exposed skin, mucosal melanomas har...

We conducted whole genome sequencing of 5 mucosal melanomas and their matched DNA from blood. We conducted whole exome sequencing of a further 5 mucosal melanomas and their matched DNA from blood.
Conjunctival and mucosal melanoma
MicroRNAs are 18-23 nucleotide non-coding RNAs that regulate gene expression in a sequence specific manner. Little is known about the repertoire and function of miRNAs in melanoma or the melanocytic lineage. We therefore undertook a comprehensive analysis of the miRNAome in a diverse range of pigmen...
ORGANISM(S): Homo sapiens 
Mucosal melanomas (MM) arise from mucosal melanocytes at different anatomical sites. MM are rare and highly aggressive, and their outcome is very poor.  Only dismal clinical benefits have been obtained for the disseminated disease, with very limited promising results using approved immune checkpoint...
ORGANISM(S): Homo sapiens (Human) 
2026-03-16 | PXD059186 | Pride
Melanoma is the fourth most common cancer in Australia and the leading cause of cancer death in young adults. The Australian Melanoma Genome Project (AMGP) is analysing whole genomes from melanomas. We include the results of whole genome sequencing (WGS) for a number of datasets that include cutaneo...
Whole transcriptome analysis of mucosal melanoma
Whole transcriptome analysis of mucosal melanoma
Mucosal Melanomas (MM) are highly aggressive neoplasms arising from mucosal melanocytes. Current treatments offer a limited survival benefit for patients with advanced MM; moreover, the lack of pre-clinical cellular systems has significantly limited the understanding of their immunobiology. By morph...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD037551 | Pride
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