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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2008-8-1
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pubmed:abstractText |
Constitutive hedgehog signaling has been implicated in the tumorigenesis of cartilaginous neoplasia; however, a common mutational mechanism remains unknown. Some tumors exhibiting hedgehog pathway activation such as basal cell cancer frequently harbor PATCHED-ONE (PTCH-1) or SMOOTHENED (SMO) gene mutations. We therefore asked whether mutations of the hedgehog receptor genes PTCH-1 or SMO occur in cartilage tumors. Singlestrand conformation polymorphism (SSCP) analysis with subsequent manual sequencing was performed to detect alterations of PTCH-1 and SMO in 46 cartilage tumors. SSCP detected five shifts in the PTCH-1 gene and two shifts in SMO. Direct DNA sequencing revealed the five shifts in PTCH-1 were caused by silent nucleotide alterations. The two SMO shifts were the result of the same missense mutation (783G>A) and occurred in one dedifferentiated chondrosarcoma and a synovial chondromatosis. The patient with chondromatosis also carried this same mutation in the germline. However, this mutation was also identified in leukocyte DNA from three of 127 (2.4%) control subjects without cartilage tumors, suggesting it may represent a rare SMO variant. Constitutive activation of the hedgehog signaling pathway in chondrosarcoma is rarely caused by PTCH-1 or SMO mutations. [corrected]
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1528-1132
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
466
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2184-9
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pubmed:dateRevised |
2009-12-10
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pubmed:meshHeading |
pubmed-meshheading:18543049-Bone Neoplasms,
pubmed-meshheading:18543049-Chondrosarcoma,
pubmed-meshheading:18543049-DNA Mutational Analysis,
pubmed-meshheading:18543049-Germ-Line Mutation,
pubmed-meshheading:18543049-Humans,
pubmed-meshheading:18543049-Mutation, Missense,
pubmed-meshheading:18543049-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:18543049-Receptors, Cell Surface,
pubmed-meshheading:18543049-Receptors, G-Protein-Coupled
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pubmed:year |
2008
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pubmed:articleTitle |
Patched-one or smoothened gene mutations are infrequent in chondrosarcoma.
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pubmed:affiliation |
Department of Orthopaedic Oncology, People's Hospital, Beijing University, Beijing, China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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