BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level
| Autor: | Nikolaus Gassler, Herwart F. Otto, Marianne Thome, Burkhard Helmke, Wolfgang Wahl, Annemarie Poustka, Stefan Lyer, Jan Mollenhauer, Martin Deichmann, Axel Benner, Christel Herold-Mende |
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| Rok vydání: | 2004 |
| Předmět: |
Male
Proto-Oncogene Proteins B-raf Neuroblastoma RAS viral oncogene homolog Pathology medicine.medical_specialty Skin Neoplasms Constipation DNA Mutational Analysis medicine.disease_cause Polymerase Chain Reaction Exon medicine Humans Missense mutation Melanoma neoplasms Aged Aged 80 and over Mutation Hepatology Transition (genetics) Rectal Neoplasms business.industry Gastroenterology DNA Neoplasm Middle Aged Anus Neoplasms Cutaneous melanoma Immunohistochemistry medicine.symptom business |
| Zdroj: | Helmke, B M, Mollenhauer, J, Herold-Mende, C, Benner, A, Thome, M, Gassler, N, Wahl, W, Lyer, S, Poustka, A, Otto, H F & Deichmann, M 2004, ' BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level. ', Gastroenterology, vol. 127, no. 6, pp. 1815-20 . |
| ISSN: | 0016-5085 |
| Popis: | Udgivelsesdato: 2004-Dec BACKGROUND & AIMS: Anorectal melanoma (AM) is a rare but highly malignant tumor, displaying histologic and immunohistochemical features very similar to cutaneous melanoma (CM). Because BRAF mutations were recently identified in the majority of CM and nevi, we investigated AM for BRAF mutations and mutations of NRAS , an additional component of the MAPK-signalling pathway. METHODS: DNA from formalin-fixed and paraffin-embedded AM was PCR amplified and sequenced. RESULTS: We detected BRAF mutations in 2 of 19 cases and NRAS mutations in none of the cases. Mutations in exon 15 of BRAF were present in only 1 tumor (1 of 19 cases). The A1800T base exchange represented a novel mutation and resulted in a K600N transition in an AM from a 96-year-old white man who presented with rectal bleeding and painful sitting of a few weeks' duration. The second positive AM case, a 69-year-old white man who presented with painless rectal bleeding and clinical symptoms of an intestinal constipation showed a novel missense mutation (C1327T leading to R443W conversion) in BRAF exon 11. None of the AM cases displayed the oncogenic V599E mutation preponderating in CM. CONCLUSIONS: With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level. |
| Databáze: | OpenAIRE |
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