上上上上上上上上上 Epithelial Neoplasms and Fusion Genes Hongying Zhang ( 上上上 ) 1 , Andre M. Oliveira 2 1 Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China (上上上上 上上上上上上上上上 上上上上上 西 ) ; 2 Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
上皮肿瘤和融合基因 Epithelial Neoplasms and Fusion Genes. Hongying Zhang ( 张红英 ) 1 , Andre M. Oliveira 2 1 Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China ( 中国四川省成都市四川大学华西医院病理科 ) ; - PowerPoint PPT Presentation
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上皮肿瘤和融合基因Epithelial Neoplasms
and Fusion GenesHongying Zhang (张红英 )1, Andre M. Oliveira2
1Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China (中国四川省成都市四川大学华西医院病理科) ;
2Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
Introduction• Recurrent chromosomal rearrangements with
the formation of fusion genes(融合基因) have been traditionally associated with hematologic and mesenchymal tumors (血液肿瘤和间叶肿瘤) but only rarely in epithelial neoplasms(上皮肿瘤)
• This view has cultivated the erroneous impression that the oncogenic mechanisms present in these tumors are fundamentally different from those found in epithelial neoplasms
• One of the reasons more fusion genes have been found in hematologic malignancies is because these tumors are more often karyotyped
• There may not be any fundamental tissue-specific differences in the genetic mechanisms by which neoplasia is initiated
Nat Genet 2004;36:331-4.
Introduction
• Review and discuss the chromosomal rearrangements and fusion genes in epithelial neoplasms– Head and neck– Thyroid– Kidney– Breast– Prostate– Lung
Pleomorphic Adenoma
• PLAG1 fusion genes (8q12) (40%)– CTNNB1-PLAG1-most common
• EML4-ALK in non-small-cell lung carcinomas (NSCLCs) (<7%)– The majority of them belong to
adenocarcinomas– This fusion appears to be
associated with young age– Predominantly seen in non- or
light-smokers
• Two additional alternate ALK fusion genes– TFG-ALK– KIF5B-ALK
ALK immunoreactivity
rearrangement of the ALK locus
Provided by Drs Boland and Yi, Mayo Clinic, Rochester, MN, USA
chimeric protein
Conclusions• The formation of fusion genes is a universal
oncogenic mechanism observed in a variety of human neoplasms
• The use of traditional gene mapping techniques and novel bioinformatic approaches have led to the identification of several novel fusion genes in epithelial neoplasms
• The identification of fusion genes in epithelial neoplasia has open new avenues for the diagnosis, prognosis and therapy of epithelial neoplasms