台北市立万得芳医院.pptVIP

Present: 住院醫師 陳志榮 Genomic Aberrations are Rare in Urothelial neoplasmsof Patients 19 Years or Younger PJ Wild,J Giedl, R Stoehr, K Junker, S Boehm, JMM van Oers, EC Zwarthoff, H Blaszyk, SW Fine,PA Humphrey, LP Dehner, MB Amin, JI Epstein and A Hartmann J Pathol 2006 Introduction Bladder cancer: Older people (sixth decade of life) 20 year old: distinct unusual Prognostic value: not consensus, but favorable outcome mostly. The definition of “young”: ranging from 20 years to 40–45 years The frequently changing classification of urothelial neoplasms Introduction The 2004 WHO classification 23 patients: ≦20 years Urothelial neoplasms of low malignant potential (PUNLMP) or low-grade non-invasive papillary tumors Favorable clinical outcome Introduction The 2004 WHO Classification Papilloma Papillary neoplasm of low malignant potential (PUNLMP) Low-grade papillary carcinoma High-grade papillary carcinoma Patients and Method 14 patients: ≦20 years with urothelial neoplasms Johns Hopkins Hospital, Barnes-Jewish Hospital, Washington-University Medical Center. Paraffin wax-embedded tumor tissue. 2004 WHO criteria : Urothelial papilloma (n = 1) PUNLMP (n = 7) pTa low-grade (n = 5) pTa high-grade (n = 1) Patients and Method FGFR3 and TP53 mutation screening. Comparative genomic hybridization (CGH). Multicolour fluorescence in situ hybridization. Human papillomavirus (HPV) DNA. Microsatellite analysis: detection of microsatellite instability (MSI). Markers for loss of heterozygosity (LOH) located on chromosome arms 9p, 9q, and 17p. Immunohistochemistry: TP53, Ki-67, CK20, hMSH2, hMLH1 and hMSH6 (mismatch repair proteins). Laser Microdissection and DNA Isolation: 5 μm tissue section Pure populations: 90% neoplastic bladder tumor cells Extracted normal and tumor DNA LOH Analysis Whole genome amplification: Improved primer extension pre-amplification PCR with limited tumor/ normal cells LOH analysis : 9p21 (D9S304, D9S1751) 9q (D