Pulmonary adenocarcinoma with enteric differentiation: Dissecting oncogenic genes alterations with DNA sequencing and FISH analysis.

TitlePulmonary adenocarcinoma with enteric differentiation: Dissecting oncogenic genes alterations with DNA sequencing and FISH analysis.
Publication TypeJournal Article
Year of Publication2017
AuthorsNottegar A, Tabbo F, Luchini C, Guerrera F, Gaudiano M, Bria E, Brunelli M, Chilosi M, Inghirami G
JournalExp Mol Pathol
Volume102
Issue2
Pagination276-279
Date Published2017 04
ISSN1096-0945
KeywordsAdenocarcinoma, Adenocarcinoma of Lung, Aged, Anaplastic Lymphoma Kinase, Class I Phosphatidylinositol 3-Kinases, Codon, ErbB Receptors, Female, Gene Expression Regulation, Neoplastic, Gene Rearrangement, GTP Phosphohydrolases, Humans, In Situ Hybridization, Fluorescence, Lung Neoplasms, Male, Membrane Proteins, Middle Aged, Mutation, Phosphatidylinositol 3-Kinases, Proto-Oncogene Proteins p21(ras), Receptor Protein-Tyrosine Kinases, Sequence Analysis, DNA
Abstract

BACKGROUND: 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.

METHODS: 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.

RESULTS: 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.

CONCLUSIONS: 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.

DOI10.1016/j.yexmp.2017.02.014
Alternate JournalExp Mol Pathol
PubMed ID28237660
Related Faculty: 
Giorgio Inghirami, M.D.

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