Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
J Clin Pathol. 2011 Apr;64(4):349-53. doi: 10.1136/jcp.2010.085696. Epub 2011 Feb 3.
Pulmonary blastoma (PB) is a rare malignant lung tumour with an immature mesenchymal and epithelial component resembling fetal lung. In order to define potential therapeutic targets in PB, the authors analysed the status and possible role of EGFR, HER2 and c-KIT in the pathogenesis of this tumour type, and the diagnostic value of β-catenin mutation analysis in PB.
5 PBs were analysed for EGFR, HER2, c-KIT, and β-catenin expression, as well as for mutations in EGFR, c-KIT, k-ras and the β-catenin gene (CTNNB1).
EGFR expression was observed in all PBs. An EGFR mutation was found in one of the tumours. No overexpression of c-KIT or HER2 was seen. No mutations were found in k-ras or c-KIT. 3 of 5 PBs displayed CTNNB1 mutations. Nuclear translocation of β-catenin was seen in 2 of these tumours.
Detection of EGFR expression and mutation in PB suggest EGFR inhibition as a potential therapeutic option in the treatment of advanced PB. Moreover, the data confirm a crucial role of CTNNB1 mutations in the pathogenesis of PB, and indicate that CTNNB1 gene sequencing may be a useful in distinguishing PB from other types of lung cancer.
肺胚细胞瘤（PB）是一种罕见的恶性肺肿瘤，具有类似于胎儿肺的未成熟间充质和上皮成分。为了确定 PB 中的潜在治疗靶点，作者分析了 EGFR、HER2 和 c-KIT 在这种肿瘤类型发病机制中的状态和可能作用，以及β-连环蛋白突变分析在 PB 中的诊断价值。
分析了 5 例 PB 中 EGFR、HER2、c-KIT 和 β-连环蛋白的表达情况，以及 EGFR、c-KIT、k-ras 和 β-连环蛋白基因（CTNNB1）的突变情况。
所有 PB 中均观察到 EGFR 表达。在其中一个肿瘤中发现了 EGFR 突变。未观察到 c-KIT 或 HER2 的过表达。未在 k-ras 或 c-KIT 中发现突变。5 例 PB 中有 3 例显示 CTNNB1 突变。在其中 2 个肿瘤中观察到β-连环蛋白的核转位。
在 PB 中检测到 EGFR 表达和突变提示 EGFR 抑制可能是治疗晚期 PB 的一种潜在治疗选择。此外，这些数据证实了 CTNNB1 突变在 PB 发病机制中的关键作用，并表明 CTNNB1 基因测序可能有助于将 PB 与其他类型的肺癌区分开来。
