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  MIA is a potential biomarker for tumour load in neurofibromatosis type 1

Kolanczyk, M., Mautner, V., Kossler, N., Nguyen, R., Kuhnisch, J., Zemojtel, T., et al. (2011). MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med, 9, 82. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21726432 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224593/pdf/1741-7015-9-82.pdf?tool=pmcentrez.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-782E-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-782F-8
Genre: Journal Article

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Kolanczyk, M.1, Author              
Mautner, V., Author
Kossler, N.1, Author              
Nguyen, R., Author
Kuhnisch, J., Author
Zemojtel, T.2, Author              
Jamsheer, A., Author
Wegener, E., Author
Thurisch, B., Author
Tinschert, S.1, Author              
Holtkamp, N., Author
Park, S. J., Author
Birch, P., Author
Kendler, D., Author
Harder, A., Author
Mundlos, S.1, Author              
Kluwe, L., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433547              

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Free keywords: Adolescent; Adult; Aged; Animals; Disease Models, Animal; Extracellular Matrix Proteins/*analysis; Female; Humans; Male; Mice; Mice, Inbred C57BL; Middle Aged; Neoplasm Proteins/*analysis; Neurofibromatosis 1/*pathology; *Tumor Burden; Tumor Markers, Biological/*analysis; Young Adult
 Abstract: BACKGROUND: Neurofibromatosis type 1 (NF1) is a frequent genetic disease characterized by multiple benign tumours with increased risk for malignancy. There is currently no biomarker for tumour load in NF1 patients. METHODS: In situ hybridization and quantitative real-time polymerase reaction were applied to investigate expression of cartilage-specific genes in mice bearing conditional inactivation of NF1 in the developing limbs. These mice do not develop tumours but recapitulate aspects of NF1 bone dysplasia, including deregulation of cartilage differentiation. It has been recently shown that NF1 tumours require for their growth the master regulator of cartilage differentiation SOX9. We thus hypothesized that some of the cartilage-specific genes deregulated in an Nf1Prx1 mouse model might prove to be relevant biomarkers of NF1 tumours. We tested this hypothesis by analyzing expression of the SOX9 target gene product melanoma-inhibitory activity/cd-rap (MIA) in tumour and serum samples of NF1 patients. RESULTS: Increased expression of Mia was found in Nf1-deficient cartilage in mice. In humans, MIA was expressed in all NF1-related tumours and its serum levels were significantly higher in NF1 patients than in healthy controls. Among NF1 patients, MIA serum levels were significantly higher in those with plexiform neurofibromas and in those with large number of cutaneous (> 1,000) or subcutaneous (> 100) neurofibromas than in patients without such tumours. Most notably, MIA serum levels correlated significantly with internal tumour burden. CONCLUSIONS: MIA is a potential serum biomarker of tumour load in NF1 patients which could be useful in following the disease course and monitoring the efficacy of therapies.

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 Dates: 2011
 Publication Status: Published in print
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Title: BMC Med
Source Genre: Journal
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Pages: - Volume / Issue: 9 Sequence Number: - Start / End Page: 82 Identifier: ISSN: 1741-7015 (Electronic) 1741-7015 (Linking)