| Involvement of PTCH gene in various noninflammatory cysts. | |
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MedLine Citation:
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PMID: 10868476 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Constitutional hemizygous inactivation of PTCH, the Shh signaling pathway gene that moderates the signal, manifests itself as nevoid basal cell carcinoma syndrome or Gorlin syndrome, a condition variably characterized by a number of developmental disorders and malformations, and by predisposition to some malignancies, basal cell carcinoma in particular. Loss of heterozygosity for the PTCH region was found several years ago in the epithelial lining of odontogenic keratocysts, the cyst type with highly increased incidence in nevoid basal cell carcinoma syndrome. This finding confirmed the expectations that the gene responsible for the syndrome would have a decisive role in the genesis of these cysts even when they are not syndrome related. Suggestive temporal distribution of Shh signaling, recently observed during tooth development, lead us to investigate PTCH association with dentigerous cysts, the other major noninflammatory cyst of odontogenic origin. We report here that PTCH appears to be inactivated in dentigerous cysts, suggesting that it is responsible for their genesis as well. More generally, if our similar observations of incomplete heterozygosity in this region for dermoid cysts can be interpreted as loss of heterozygosity, PTCH alterations may prove to be a necessary, and perhaps the initiating event, in formation and growth of various noninflammatory cysts. This would be consistent with our view that local PTCH inactivation can, under favorable circumstances, lead to persistent though not by itself truly aggressive cell proliferation. |
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Authors:
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S Levanat; B Pavelić; I Crnić; S Oresković; S Manojlović |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of molecular medicine (Berlin, Germany) Volume: 78 ISSN: 0946-2716 ISO Abbreviation: J. Mol. Med. Publication Date: 2000 |
Date Detail:
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Created Date: 2000-10-24 Completed Date: 2000-10-24 Revised Date: 2011-07-08 |
Medline Journal Info:
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Nlm Unique ID: 9504370 Medline TA: J Mol Med (Berl) Country: GERMANY |
Other Details:
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Languages: eng Pagination: 140-6 Citation Subset: IM |
Affiliation:
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Division of Molecular Medicine, Ruder Bosković Institute, Zagreb, Croatia. levanat@rudjer.irb.hr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Dentigerous Cyst / genetics*, metabolism* Female Genetic Markers Hedgehog Proteins Humans Jaw Diseases / genetics*, metabolism* Loss of Heterozygosity Male Membrane Proteins / genetics*, metabolism* Middle Aged Ovarian Cysts / genetics, metabolism Polymerase Chain Reaction Polymorphism, Genetic Proteins / genetics, metabolism Receptors, Cell Surface Sequence Analysis, DNA Tooth / embryology, metabolism Trans-Activators* |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/Hedgehog Proteins; 0/Membrane Proteins; 0/Proteins; 0/Receptors, Cell Surface; 0/SHH protein, human; 0/Trans-Activators; 0/patched receptors |
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