A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma.
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma.
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肺母细胞瘤临床病理及分子特征的回顾性分析
DOI：
10.2147/ott.s117097
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发表时间：
2016
影响因子：
4
通讯作者：
Zhang L
中科院分区：
文献类型：
--
作者：
Zhao YY;Liu L;Zhou T;Zhou NN;Yang YP;Hou X;Li Y;Zhao HY;Huang Y;Zhang L
目的分析总结典型双期肺母细胞瘤（PB）的临床病理及分子特征，以提高其诊断和治疗水平。患者与方法回顾性分析1995年3月至2015年3月中山大学肿瘤中心诊断为PB的患者。使用基于捕获的靶向测序面板分析基因组DNA。结果共纳入16例患者，平均年龄40岁。准确的术前诊断非常具有挑战性，因为需要手术切除的组织进行免疫组织化学染色才能进行诊断。手术是局部疾病的最佳治疗方法，对于转移性疾病没有标准的治疗方法。在56个基因中检测到9个突变，包括BRCA2、ERBB4、ALK、MET、BRAF、RAF1、PTEN、EGFR和PIK3CA。结论由于PB的发病率低，再分类，目前尚无标准的治疗方法。尽管病例数量很少，个体经历不同，但提高我们对这种罕见肺癌的认识是很重要的。靶向DNA测序可能用于临床分子检测，靶向治疗的效果有待证实。
Purpose The aim of this study was to analyze and summarize the clinicopathological and molecular characteristics of classic biphasic pulmonary blastoma (PB) to improve its diagnosis and treatment. Patients and methods A retrospective analysis was performed in patients who were diagnosed with PB at Sun Yat-Sen University Cancer Center from March 1995 to March 2015. Genomic DNA was profiled using a capture-based targeted sequencing panel. Results Sixteen patients with an average age of 40 years were included in this study. Accurate preoperative diagnosis was very challenging as surgically resected tissues with immunohistochemical staining were required for the diagnosis. Surgery was the optimal treatment for localized disease and there was no standard management for metastatic disease. Mutations were detected among 9 out of the 56 genes profiled, including BRCA2, ERBB4, ALK, MET, BRAF, RAF1, PTEN, EGFR, and PIK3CA. Conclusion Due to the low incidence rate and the reclassification of PB, no standard treatment is available. Although the numbers of cases are few with varying individual experiences, it is important to improve our understanding regarding this rare lung cancer. Targeted DNA sequencing may be of clinical use for molecular testing and the effects of targeted therapy need to be confirmed.