| Molecular characterization of human cutaneous melanoma-derived cell lines. | |
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MedLine Citation:
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PMID: 22493355 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Several studies have demonstrated that different genetic profiles contribute to melanoma development and progression. MATERIALS AND METHODS: To evaluate the existence of different molecular aberration patterns in melanoma associated with v-raf murine sarcoma viral oncogene homolog B1 (BRAF) or 9p21 locus alterations, eleven patient-derived melanoma cell lines were characterized. Multiplex ligation probe amplification (MLPA) was used to detect chromosomal alterations. Single- strand conformation analysis and sequencing were performed to study BRAF, neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (c-KIT), melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R), cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4) genes. RESULTS: BRAFV600E mutation was detected in 54% of cell lines. NRAS was mutated in one cell line also carrying multiple copies of NRAS. All cell lines with MC1R variants harboured BRAFV600E. Concurrent loss of MUTYH (1p33), gains of c-MYC (8q24) and of CDK6 (7q21) were found to be significantly associated in cell lines (45%) that harboured biallelic 9p21 deletions including CDKN2B-CDKN2A-MTAP. CONCLUSION: These data suggest the existence of a specific pattern of somatic alterations in genes that are involved in DNA repair (MUTYH) and in cell cycle regulation (c-MYC, CDK6, CDKN2A and CDKN2B). Interestingly, all MC1R variants were associated with BRAFV600E and all cell lines from visceral metastases harboured BRAFV600E. |
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Authors:
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Zighereda Ogbah; Joan Anton Puig-Butille; Federico Simonetta; Celia Badenas; Remedios Cervera; Jordi Milá; Daniel Benitez; Josep Malvehy; Ramon Vilella; Susana Puig |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Anticancer research Volume: 32 ISSN: 1791-7530 ISO Abbreviation: Anticancer Res. Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-04-11 Completed Date: 2012-05-24 Revised Date: 2012-06-25 |
Medline Journal Info:
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Nlm Unique ID: 8102988 Medline TA: Anticancer Res Country: Greece |
Other Details:
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Languages: eng Pagination: 1245-51 Citation Subset: IM |
Affiliation:
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Melanoma Unit of the Department of Dermatology, Hospital Clínic of Barcelona, IDIBAPS, Barcelona University, Barcelona, Spain. zigheog@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Cell Line, Tumor Cyclin-Dependent Kinase 4 / genetics DNA Primers Genes, ras Humans Melanoma / genetics*, pathology Mutation Polymerase Chain Reaction Proto-Oncogene Proteins B-raf / genetics Proto-Oncogene Proteins c-kit / genetics Receptor, Melanocortin, Type 1 / genetics Skin Neoplasms / genetics*, pathology |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 0/Receptor, Melanocortin, Type 1; EC 2.7.10.1/Proto-Oncogene Proteins c-kit; EC 2.7.11.1/BRAF protein, human; EC 2.7.11.1/Proto-Oncogene Proteins B-raf; EC 2.7.11.22/CDK4 protein, human; EC 2.7.11.22/Cyclin-Dependent Kinase 4 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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