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Oncogene abnormalities in a series of primary melanomas of the sinonasal tract: NRAS mutations and cyclin D1 amplification are more frequent than KIT or BRAF mutations

التفاصيل البيبلوغرافية
العنوان: Oncogene abnormalities in a series of primary melanomas of the sinonasal tract: NRAS mutations and cyclin D1 amplification are more frequent than KIT or BRAF mutations
المؤلفون: Nicolas Ortonne, Issam Abd Alsamad, Nicolas Dumaz, Meriem Chraybi, Maryse Baia, Christiane Copie-Bergman, Jocelyne André
المساهمون: Service d'anatomie et cytologie pathologiques, CHI Créteil, INSERM U955, équipe 9, Département de pathologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Immunologie, dermatologie, oncologie, Oncodermatologie, immunologie et cellules souches cutanées (IDO (U976 / UMR_S 976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Guellaen, Georges
المصدر: Human Pathology
Human Pathology, WB Saunders, 2013, 44 (9), pp.1902-11. ⟨10.1016/j.humpath.2013.01.025⟩
بيانات النشر: Elsevier BV, 2013.
سنة النشر: 2013
مصطلحات موضوعية: Male, Neuroblastoma RAS viral oncogene homolog, MESH: Cyclin D1, DNA Mutational Analysis, cyclin D1, sinonasal melanoma, medicine.disease_cause, MESH: Gene Amplification, GTP Phosphohydrolases, MESH: Aged, 80 and over, 0302 clinical medicine, Epidermal growth factor receptor, MESH: DNA Mutational Analysis, Melanoma, Aged, 80 and over, MESH: Aged, 0303 health sciences, Mutation, MESH: Middle Aged, medicine.diagnostic_test, biology, KIT, DNA, Neoplasm, Middle Aged, CCND1 amplification, 3. Good health, MESH: Proto-Oncogene Proteins c-kit, Proto-Oncogene Proteins c-kit, Real-time polymerase chain reaction, 030220 oncology & carcinogenesis, Female, MESH: Membrane Proteins, Paranasal Sinus Neoplasms, Proto-Oncogene Proteins B-raf, MESH: Mutation, MESH: GTP Phosphohydrolases, MESH: Melanoma, MESH: DNA, Neoplasm, NRAS, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Cyclin D1, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, neoplasms, Aged, Retrospective Studies, 030304 developmental biology, MESH: Paranasal Sinus Neoplasms, MESH: Proto-Oncogene Proteins B-raf, MESH: Humans, Gene Amplification, Membrane Proteins, MESH: Retrospective Studies, Sinonasal Tract, medicine.disease, MESH: Male, BRAF mutation, Primary malignant melanoma of sinonasal tract, Cancer research, biology.protein, MESH: Female, Fluorescence in situ hybridization
الوصف: International audience; Primary malignant melanoma of sinonasal tract is a rare but severe form of melanoma. We retrospectively analyzed 17 cases and focused on the histologic presentation and the expression of c-Kit, epidermal growth factor receptor (EGFR), cyclin D1/Bcl-1, PS100, and HMB45 and searched for BRAF, NRAS, and KIT mutations that are known to be associated with melanoma subtypes, together with amplifications of KIT, cyclin D1, cyclin-dependent kinase 4, MDM2, and microphthalmia-associated transcription factor using quantitative polymerase chain reaction. In most cases (78%), an in situ component was evidenced. Invasive components were composed of diffuse areas of rhabdoid, epithelioid, or spindle cells and, in most cases, lacked inflammatory reaction, suggesting that an immune escape phenomenon probably develops when the disease progresses. EGFR was rarely and weakly expressed in the in situ component of 2 cases. None of the investigated case showed BRAF V600E, but 1 had a D594G mutation. NRAS mutations in exon 2 (G12D or G12A) were found in 3 cases (18%), and a KIT mutation in exon 11 (L576P), in 1, whereas c-Kit was expressed at the protein level in half of the cases. Amplifications of cyclin D1 were evidenced in 5 cases, confirmed in 3 by fluorescence in situ hybridization, but this was not always correlated with protein expression, found in 8 patients (62.5%), 3 having no significant amplification. In conclusion, primary malignant melanoma of sinonasal tract is not associated with BRAF V600E mutations. Instead, NRAS or KIT mutations and cyclin D1 amplification can be found in a proportion of cases, suggesting that primary malignant melanoma of sinonasal tract is heterogeneous at the molecular level and should not be sensitive to therapeutic approaches aiming at BRAF.
وصف الملف: application/pdf
تدمد: 0046-8177
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539155076ca1bd7830441c8b9a7e27af
https://doi.org/10.1016/j.humpath.2013.01.025
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....539155076ca1bd7830441c8b9a7e27af
قاعدة البيانات: OpenAIRE
الوصف
تدمد:00468177