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Reduced or absent expression and codon 201 Gly/Arg polymorphism of DCC gene in rhabdomyosarcoma and Ewing's sarcoma/PNET family

 S H Choi  ;  X T Kong  ;  T Taki  ;  Y Tsuchida  ;  H Kawaguchi  ;  H Kato  ;  R Hanada  ;  A T Look  ;  Y Hayashi 
 International Journal of Molecular Medicine, Vol.6(4) : 463-467, 2000 
Journal Title
 International Journal of Molecular Medicine 
Issue Date
Adolescent ; Amino Acid Substitution ; Base Sequence ; Child ; Child, Preschool ; Codon/genetics* ; DNA Mutational Analysis ; DNA, Neoplasm/chemistry ; DNA, Neoplasm/genetics ; Female ; Gene Expression Regulation, Neoplastic ; Genes, DCC/genetics* ; Heterozygote ; Humans ; Infant ; Male ; Neoplasms/genetics* ; Neoplasms/pathology ; Neuroectodermal Tumors, Primitive/genetics ; Neuroectodermal Tumors, Primitive/pathology ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Single-Stranded Conformational ; RNA, Neoplasm/genetics ; RNA, Neoplasm/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Rhabdomyosarcoma/genetics ; Rhabdomyosarcoma/pathology ; Sarcoma, Ewing/genetics ; Sarcoma, Ewing/pathology ; Tumor Cells, Cultured
Genetic alterations occurring in various chromosomes have been described in many human tumors. The DCC gene was originally identified in colorectal cancer and was reported as a tumor suppressor gene that might be related to tumor metastasis. We investigated 10 cell lines and 15 fresh tumors of childhood rhabdomyosarcoma, 7 cell lines of Ewing's sarcoma, and 4 cell lines of primitive neuroectodermal tumor (PNET) for the expression and mutation of DCC gene by RT-PCR analysis and PCR-single stranded conformation polymorphism (SSCP) analysis. Twenty-five pairs of primers were used for PCR-SSCP. Six of ten (60%) cell lines of rhabdomyosarcoma and 3 of 7 (43%) cell lines of Ewing's sarcoma showed reduced or absent expression of DCC gene. There was no mobility shift within 24 exons by SSCP analysis, although 3 types of polymorphism were found at codon 201 in exon 3. Direct sequencing of different bands showed types I, II, and I/II representative of codon 201Gly, codon 201Arg, and codon 201Gly/Arg, respectively. The proportion of type I between fresh rhabdomyosarcoma and normal controls was not significant. Our results suggested that the inactivation of DCC gene may play a role in the pathogenesis of a subset of rhabdomyosarcoma and Ewing's sarcoma.
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1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Choi, Seung Hoon(최승훈)
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