【摘要】：目的探討B(tài)RAF-V600E突變在兒童朗格漢斯細胞組織細胞增生癥(LCH)中的表達及臨床意義。方法 2009年8月至2015年6月確診兒童LCH 27例(其中男17例,女10例)。石蠟包埋其病理學(xué)活檢標本,PCR法檢測標本中BRAF-V600E突變,分析該突變與患兒臨床特點、預(yù)后等的關(guān)系。結(jié)果 27例中共9例BRAF-V600E陽性(33.3%),陽性組和陰性組的組間年齡、性別、系統(tǒng)累及、6周反應(yīng)率、3年總生存率和3年無病生存率比較差異均無統(tǒng)計學(xué)意義。結(jié)論兒童LCH存在BRAF-V600E突變,提示兒童LCH可能是一種腫瘤性疾病;BRAF-V600E突變在LCH發(fā)病、系統(tǒng)累及和疾病進展中的作用仍不明確。
[Abstract]:Objective to investigate the expression and clinical significance of BRAF-V600E mutation in children with Langerhans cell histiocytosis (LCH). Methods from August 2009 to June 2015, 27 children (17 males and 10 females) with LCH were diagnosed. The pathological biopsy specimens were embedded in paraffin and the BRAF-V600E mutation was detected by PCR method. The relationship between the mutation and the clinical characteristics and prognosis of the children was analyzed. Results there was no significant difference in age, sex, systemic involvement, 6-week reaction rate, 3-year overall survival rate and 3-year disease-free survival rate between the positive group and the negative group (33.3%). Conclusion the existence of BRAF-V600E mutation in LCH in children suggests that LCH in children may be a tumor disease, and the role of BRAF-V600E mutation in the pathogenesis, systemic involvement and progression of LCH is still unclear.
【作者單位】： 中山大學(xué)孫逸仙紀念醫(yī)院兒科血液�？�;
【基金】：廣東省科技計劃項目(編號:2017A020215126)
【分類號】：R725.9
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本文編號：2418147