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SHR Neuro Krebs Kardio Lipid

Wiesner, T; Kiuru, M; Scott, SN; Arcila, M; Halpern, AC; Hollmann, T; Berger, MF; Busam, KJ.
NF1 Mutations Are Common in Desmoplastic Melanoma.
Am J Surg Pathol. 2015; 39(10): 1357-1362. [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Autor/innen der Med Uni Graz:
Wiesner Thomas

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Number of Figures: 3
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Desmoplastic melanoma (DM) is a rare variant of melanoma with distinct clinical, histopathologic, and immunohistochemical features. Clinically, DM differs from conventional melanoma by a higher propensity for local recurrence and less frequent metastatic spread to regional lymph nodes. In its pure form, DM has a distinct appearance displaying a low density of fusiform melanocytes in a collagen-rich matrix. Whereas a number of mutations have been identified in primary melanoma, including BRAF, NRAS, GNAQ, GNA11, and KIT, and the occurrence of these mutations has been found to correlate to some extent with the histopathologic features, anatomic site, and/or mode of sun exposure, no distinct set of mutations has so far been reported for DM. To study the potential association of neurofibromin (NF1) mutations with DM, we examined 15 desmoplastic and 20 non-DMs by next-generation sequencing. Mutations of the NF1 gene were found in 14 of 15 (93%) DMs and 4 of 20 (20%) non-DMs. The high frequency of NF1 mutations in DMs suggests an important role for NF1 in the biology of this type of melanoma.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Aged -
Aged, 80 and over -
Biomarkers, Tumor - genetics
DNA Mutational Analysis - methods
Female -
Genes, Neurofibromatosis 1 -
Genetic Predisposition to Disease -
High-Throughput Nucleotide Sequencing -
Humans -
Male -
Melanoma - genetics Melanoma - pathology
Middle Aged -
Mutation -
Phenotype -
Skin Neoplasms - genetics Skin Neoplasms - pathology
Young Adult -

Find related publications in this database (Keywords)
desmoplastic melanoma
neurofibromin 1
next-generation sequencing
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