https://scholars.lib.ntu.edu.tw/handle/123456789/597089
標題: | Frequent BRAF mutation in early-onset colorectal cancer in Taiwan: Association with distinct clinicopathological and molecular features and poor clinical outcome | 作者: | JIA-HUEI TSAI JAU-YU LIAU Lin Y.-L. LI-HUI TSENG LIANG-IN LIN KUN-HUEI YEH YUNG-MING JENG |
公開日期: | 2016 | 出版社: | BMJ Publishing Group | 卷: | 69 | 期: | 4 | 起(迄)頁: | 319-325 | 來源出版物: | Journal of Clinical Pathology | 摘要: | Background: Occurrence of early-onset colorectal cancer (EOCRC) under the age of 30 is very rare and the molecular characteristics are poorly understood. A low BRAF mutation rate has been noted in several studies of EOCRC from Western countries. Aims: To determine the clinicopathological and molecular features of EOCRCs in Taiwan. Methods: KRAS/BRAF gene mutation, mismatch repair protein immunohistochemistry, microsatellite instability and CpG island methylation phenotype analyses were examined to determine the molecular characteristics of EOCRC. Results: Sixty-six patients with EOCRC at our hospital between 2000 and 2012 were studied. BRAF mutation was detected in 11 of the 59 tumours analysed (19%) and the rate was significantly higher than the overall BRAF mutation rate of colorectal cancer in patients older than 30 years (p<0.001). Clinically, 9 of 11 patients with BRAF-mutated tumours presented with advancedstage diseases and they presented significantly more frequently with stage IV disease than those with BRAF wild-type tumours (p=0.042). Histologically, BRAF mutation was associated with a poorly differentiated histology, a serrated precursor polyp and focal signet ring cell differentiation (p=0.042, 0.008 and 0.008, respectively). None of the BRAF-mutated tumours was mismatch repair protein-deficient and/or microsatellite instability-high. Overall survival of patients with BRAF-mutated tumours was significantly worse than that of patients with BRAF wild-type tumours, despite adjustment for the disease stages and tumour differentiation. Conclusions: BRAF mutation was frequent in EOCRCs in Taiwan and was associated with distinct clinicopathological and molecular features. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84961839995&doi=10.1136%2fjclinpath-2015-203335&partnerID=40&md5=19072718deeeb017bf1cdc97f14ef1b0 https://scholars.lib.ntu.edu.tw/handle/123456789/597089 |
ISSN: | 0021-9746 | DOI: | 10.1136/jclinpath-2015-203335 | SDG/關鍵字: | B Raf kinase; K ras protein; B Raf kinase; BRAF protein, human; adult; Article; cell differentiation; colorectal cancer; CpG island; female; gene mutation; human; immunohistochemistry; major clinical study; male; methylation; microsatellite instability; mutation rate; occurrence of early onset colorectal cancer; overall survival; priority journal; Taiwan; tumor differentiation; colorectal tumor; dna mutational analysis; genetics; Kaplan Meier method; mortality; onset age; pathology; prognosis; proportional hazards model; Adult; Age of Onset; Colorectal Neoplasms; DNA Mutational Analysis; Female; Humans; Immunohistochemistry; Kaplan-Meier Estimate; Male; Prognosis; Proportional Hazards Models; Proto-Oncogene Proteins B-raf; Taiwan |
顯示於: | 基因體暨蛋白體醫學研究所 |
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