PATCHED-ONE or SMOOTHENED Gene Mutations Are Infrequent in Chondrosarcoma

  • Taiqiang Yan
  • Mark Angelini
  • Benjamin A. Alman
  • Irene L. Andrulis
  • Jay S. WunderEmail author
Symposium: Molecular Genetics in Sarcoma


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. Single-strand 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 SMOshifts 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...


Chondrosarcoma Hedgehog Signaling Hedgehog Pathway Synovial Chondromatosis Hedgehog Signaling Pathway 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We thank Nalan Gokgoz for expert technical assistance.


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Copyright information

© The Association of Bone and Joint Surgeons 2008

Authors and Affiliations

  • Taiqiang Yan
    • 1
  • Mark Angelini
    • 2
    • 3
  • Benjamin A. Alman
    • 4
  • Irene L. Andrulis
    • 2
  • Jay S. Wunder
    • 2
    • 3
    Email author
  1. 1.Department of Orthopaedic Oncology, People’s HospitalBeijing UniversityBeijingChina
  2. 2.Program in Molecular Biology and CancerSamuel Lunenfeld Research InstituteTorontoCanada
  3. 3.University Musculoskeletal Oncology Unit, Mount Sinai HospitalUniversity of TorontoTorontoCanada
  4. 4.Division of Orthopaedics and Program in Developmental and Stem Cell Biology, The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada

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