IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
PATCHED-ONE or SMOOTHENED gene mutations are infrequent in chondrosarcoma
Yan, Taiqiang3; Angelini, Mark1,2; Alman, Benjamin A.4,5; Andrulis, Irene L.2; Wunder, Jay S.1,2
刊名CLINICAL ORTHOPAEDICS AND RELATED RESEARCH
2008-09-01
DOI10.1007/s11999-008-0332-2
466期:9页:2184-2189
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Orthopedics ; Surgery
研究领域[WOS]Orthopedics ; Surgery
关键词[WOS]BASAL-CELL CARCINOMA ; HEDGEHOG SIGNALING PATHWAY ; GROWTH-PLATE ; HUMAN HOMOLOG ; PTCH MUTATIONS ; BREAST-CANCER ; EXPRESSION ; PTHRP ; PROLIFERATION ; TUMORS
英文摘要

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.

语种英语
WOS记录号WOS:000258152700018
Citation statistics
Cited Times:8[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57651
Collection北京大学第二临床医学院
作者单位1.Univ Toronto, Mt Sinai Hosp, Univ Musculoskeletal Oncol Unit, Toronto, ON M5G 1X5, Canada
2.Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Program Mol Biol & Canc, Toronto, ON M5G 1X5, Canada
3.Beijing Univ, Peoples Hosp, Dept Orthopaed Oncol, Beijing, Peoples R China
4.Univ Toronto, Hosp Sick Children, Div Orthopaed, Toronto, ON, Canada
5.Univ Toronto, Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON, Canada
Recommended Citation
GB/T 7714
Yan, Taiqiang,Angelini, Mark,Alman, Benjamin A.,et al. PATCHED-ONE or SMOOTHENED gene mutations are infrequent in chondrosarcoma[J]. CLINICAL ORTHOPAEDICS AND RELATED RESEARCH,2008,466(9):2184-2189.
APA Yan, Taiqiang,Angelini, Mark,Alman, Benjamin A.,Andrulis, Irene L.,&Wunder, Jay S..(2008).PATCHED-ONE or SMOOTHENED gene mutations are infrequent in chondrosarcoma.CLINICAL ORTHOPAEDICS AND RELATED RESEARCH,466(9),2184-2189.
MLA Yan, Taiqiang,et al."PATCHED-ONE or SMOOTHENED gene mutations are infrequent in chondrosarcoma".CLINICAL ORTHOPAEDICS AND RELATED RESEARCH 466.9(2008):2184-2189.
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