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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.
Molecular characterization of mucosal melanomas
Molecular characterization of mucosal melanomas
NGS of 10 mucosal melanomas: Whole genome sequencing of 5 mucosal melanomas and matched normal DNA Whole exome sequencing of 5 mucosal melanomas and matched normal DNA
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
Although identified as the key environmental driver of common cutaneous melanoma, the role of ultraviolet radiation (UVR)-induced DNA damage in mucosal melanoma is poorly defined. We present the largest cohort of mucosal melanomas of conjunctival origin to be analyzed by whole genome sequencing and ...

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...

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
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 
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