Nottegar Alessia, Tabbò Fabrizio, Luchini Claudio, Guerrera Francesco, Gaudiano Marcello, Bria Emilio, Brunelli Matteo, Chilosi Marco, Inghirami Giorgio
Department of Diagnostics and Public Health, University and Hospital Trust of Verona, 37134 Verona, Italy.
Department of Molecular Biotechnology and Health Science, Center for Experimental Research and Medical Studies (CeRMS), University of Turin, 10126 Turin, Italy; Departments of Pathology and Pharmacology, Weill Cornell Cancer Center, Weill Cornell Medical College, Cornell University, 10065 New York, NY, USA.
Exp Mol Pathol. 2017 Apr;102(2):276-279. doi: 10.1016/j.yexmp.2017.02.014. Epub 2017 Feb 22.
Pulmonary Adenocarcinoma with Enteric Differentiation (PAED) is a rare subtype of adenocarcinoma of emerging interest, recently introduced in the 2015 WHO classification. However, little is known about major molecular signatures of this class of adenocarcinomas and information about new biomarkers totally lack.
We examined the NRAS, PIK3CA, EGFR, KRAS and BRAF status through mass spectrometry sequencing and ALK rearrangement by FISH in a series of 8 PAEDs.
1/8 (12.5%) case had a simultaneous PIK3CA mutation (E545K) and an EML4-ALK translocation. KRAS gene showed a mutation in the codon 12 in 4/8 of PAED (50%), NRAS, BRAF and EGFR genes were wild type in all tumor samples.
We concluded that PIK3CA mutations and ALK rearrangement occur also in PAEDs, while NRAS mutations might be a very rare event similarly to pulmonary adenocarcinomas of conventional type. KRAS is the prevailing gene mutated in this class of adenocarcinoma.
伴有肠型分化的肺腺癌（PAED）是一种新出现的、引人关注的腺癌罕见亚型，最近被纳入2015年世界卫生组织分类。然而，对于这类腺癌的主要分子特征知之甚少，并且完全缺乏关于新生物标志物的信息。
我们通过质谱测序检测了8例PAED患者的NRAS、PIK3CA、EGFR、KRAS和BRAF状态，并通过荧光原位杂交检测了ALK重排。
1/8（12.5%）的病例同时存在PIK3CA突变（E545K）和EML4-ALK易位。KRAS基因在4/8的PAED（50%）中第12密码子发生突变，NRAS、BRAF和EGFR基因在所有肿瘤样本中均为野生型。
我们得出结论，PIK3CA突变和ALK重排在PAED中也会发生，而NRAS突变可能是一种非常罕见的事件，类似于传统类型的肺腺癌。KRAS是这类腺癌中主要发生突变的基因。
