Molecular Genetic Investigation of Digital Melanoma in Dogs
Canine digital melanoma, in contrast to canine oral melanoma, is still largely unexplored at the molecular genetic level. The aim of this study was to detect mutant genes in digital melanoma. Paraffin-embedded samples from 86 canine digital melanomas were examined for the <i>BRAF</i> V59...
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MDPI AG
2022-01-01
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| Series: | Veterinary Sciences |
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| Online Access: | https://www.mdpi.com/2306-7381/9/2/56 |
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| author | David Conrad Alexandra Kehl Christoph Beitzinger Thomas Metzler Katja Steiger Nicole Pfarr Konrad Fischer Robert Klopfleisch Heike Aupperle-Lellbach |
| author_facet | David Conrad Alexandra Kehl Christoph Beitzinger Thomas Metzler Katja Steiger Nicole Pfarr Konrad Fischer Robert Klopfleisch Heike Aupperle-Lellbach |
| author_sort | David Conrad |
| collection | DOAJ |
| description | Canine digital melanoma, in contrast to canine oral melanoma, is still largely unexplored at the molecular genetic level. The aim of this study was to detect mutant genes in digital melanoma. Paraffin-embedded samples from 86 canine digital melanomas were examined for the <i>BRAF</i> V595E variant by digital droplet PCR (ddPCR), and for exon 11 mutations in <i>c-kit.</i> Furthermore, exons 2 and 3 of <i>KRAS</i> and <i>NRAS</i> were analysed by Sanger sequencing. Copy number variations (CNV) of <i>KITLG</i> in genomic DNA were analysed from nine dogs. The <i>BRAF</i> V595E variant was absent and in <i>c-kit</i>, a single nucleotide polymorphism was found in 16/70 tumours (23%). The number of copies of <i>KITLG</i> varied between 4 and 6. <i>KRAS</i> exon 2 codons 12 and 13 were mutated in 22/86 (25.6%) of the melanomas examined. Other mutually exclusive <i>RAS</i> mutations were found within the hotspot loci, i.e., <i>KRAS</i> exon 3 codon 61: 2/55 (3.6%); <i>NRAS</i> exon 2 codons 12 and 13: 2/83 (2.4%); and <i>NRAS</i> exon 3 codon 61: 9/86 (10.5%). However, no correlation could be established between histological malignancy criteria, survival times and the presence of <i>RAS</i> mutations. In summary, canine digital melanoma differs from molecular genetic data of canine oral melanoma and human melanoma, especially regarding the proportion of <i>RAS</i> mutations. |
| first_indexed | 2024-03-09T20:54:03Z |
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| institution | Directory Open Access Journal |
| issn | 2306-7381 |
| language | English |
| last_indexed | 2024-03-09T20:54:03Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Veterinary Sciences |
| spelling | doaj.art-efb5360c39814cc6b061b2f024ab12532023-11-23T22:27:56ZengMDPI AGVeterinary Sciences2306-73812022-01-01925610.3390/vetsci9020056Molecular Genetic Investigation of Digital Melanoma in DogsDavid Conrad0Alexandra Kehl1Christoph Beitzinger2Thomas Metzler3Katja Steiger4Nicole Pfarr5Konrad Fischer6Robert Klopfleisch7Heike Aupperle-Lellbach8Department of Pathology, LABOKLIN GmbH & Co. KG, 97688 Bad Kissingen, GermanyDepartment of Molecular Biology, LABOKLIN GmbH & Co. KG, 97688 Bad Kissingen, GermanyDepartment of Molecular Biology, LABOKLIN GmbH & Co. KG, 97688 Bad Kissingen, GermanyInstitute of Pathology, School of Medicine, Technische Universität München, 81675 München, GermanyInstitute of Pathology, School of Medicine, Technische Universität München, 81675 München, GermanyInstitute of Pathology, School of Medicine, Technische Universität München, 81675 München, GermanySchool of Life Sciences Weihenstephan, Technische Universität München, 85354 Freising, GermanyDepartment of Pathology, Freie Universität Berlin, 14163 Berlin, GermanyDepartment of Pathology, LABOKLIN GmbH & Co. KG, 97688 Bad Kissingen, GermanyCanine digital melanoma, in contrast to canine oral melanoma, is still largely unexplored at the molecular genetic level. The aim of this study was to detect mutant genes in digital melanoma. Paraffin-embedded samples from 86 canine digital melanomas were examined for the <i>BRAF</i> V595E variant by digital droplet PCR (ddPCR), and for exon 11 mutations in <i>c-kit.</i> Furthermore, exons 2 and 3 of <i>KRAS</i> and <i>NRAS</i> were analysed by Sanger sequencing. Copy number variations (CNV) of <i>KITLG</i> in genomic DNA were analysed from nine dogs. The <i>BRAF</i> V595E variant was absent and in <i>c-kit</i>, a single nucleotide polymorphism was found in 16/70 tumours (23%). The number of copies of <i>KITLG</i> varied between 4 and 6. <i>KRAS</i> exon 2 codons 12 and 13 were mutated in 22/86 (25.6%) of the melanomas examined. Other mutually exclusive <i>RAS</i> mutations were found within the hotspot loci, i.e., <i>KRAS</i> exon 3 codon 61: 2/55 (3.6%); <i>NRAS</i> exon 2 codons 12 and 13: 2/83 (2.4%); and <i>NRAS</i> exon 3 codon 61: 9/86 (10.5%). However, no correlation could be established between histological malignancy criteria, survival times and the presence of <i>RAS</i> mutations. In summary, canine digital melanoma differs from molecular genetic data of canine oral melanoma and human melanoma, especially regarding the proportion of <i>RAS</i> mutations.https://www.mdpi.com/2306-7381/9/2/56canineacralmutationtumour<i>BRAF</i><i>KRAS</i> |
| spellingShingle | David Conrad Alexandra Kehl Christoph Beitzinger Thomas Metzler Katja Steiger Nicole Pfarr Konrad Fischer Robert Klopfleisch Heike Aupperle-Lellbach Molecular Genetic Investigation of Digital Melanoma in Dogs Veterinary Sciences canine acral mutation tumour <i>BRAF</i> <i>KRAS</i> |
| title | Molecular Genetic Investigation of Digital Melanoma in Dogs |
| title_full | Molecular Genetic Investigation of Digital Melanoma in Dogs |
| title_fullStr | Molecular Genetic Investigation of Digital Melanoma in Dogs |
| title_full_unstemmed | Molecular Genetic Investigation of Digital Melanoma in Dogs |
| title_short | Molecular Genetic Investigation of Digital Melanoma in Dogs |
| title_sort | molecular genetic investigation of digital melanoma in dogs |
| topic | canine acral mutation tumour <i>BRAF</i> <i>KRAS</i> |
| url | https://www.mdpi.com/2306-7381/9/2/56 |
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