Methylation analysis of the neurofibromatosis type 1 (NF1) promoter in peripheral nerve sheath tumours
| Autor: | K. Uhlmann, Reinhard E Friedrich, D.E. Reuß, A. von Deimling, V. F. Mautner, Nikola Holtkamp, M. Rosche, A. Harder |
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| Rok vydání: | 2004 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Cancer Research Pathology medicine.medical_specialty Neurofibromatosis 1 Transcription Genetic Molecular Sequence Data Loss of Heterozygosity Biology Polymerase Chain Reaction Antioxidants Nerve Sheath Neoplasms Malignant transformation Plexiform neurofibroma medicine Leukocytes Humans Sulfites Neurofibromatosis Promoter Regions Genetic Peripheral Nerve Sheath Promoter Methylation DNA Neoplasm DNA Methylation medicine.disease Clone Cells Oncology CpG site DNA methylation Cancer research Female |
| Zdroj: | European journal of cancer (Oxford, England : 1990). 40(18) |
| ISSN: | 0959-8049 |
| Popis: | Peripheral nerve sheath tumours are hallmarks of neurofibromatosis type 1 (NF1). Development of plexiform neurofibromas to malignant peripheral nerve sheath tumours (MPNST) is common. The NF1 gene promoter harbours a hypomethylated CpG island. Thus, methylation changes may be involved in the development of different types of neurofibromas and malignant transformation. We investigated NF1-associated dermal (n=9) and plexiform neurofibromas (n=7), MPNST (n=5) and non-NF1 leucocyte samples (n=20) for their methylation pattern by bisulphite genomic sequencing. We could not find global hypermethylation in the NF1 promoter in our series. Nevertheless, site-specific methylation, involving transcription factor binding sites for SP1, CRE (-10), and AP-2, was observed. One region of the 5'-UTR (untranslated region) overlapping with a putative AP-2 binding site was methylated at 30-100% in 4/20 control samples. In conclusion, we did not find hypermethylation in NF1-associated tumours. Instead, low level methylation could parallel a global genomic hypomethylation in malignancy. |
| Databáze: | OpenAIRE |
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