Alessia Nottegar1, Fabrizio Tabbò2, Claudio Luchini3, Francesco Guerrera4, Marcello Gaudiano5, Emilio Bria6, Matteo Brunelli7, Marco Chilosi7, Giorgio Inghirami8. 1. Department of Diagnostics and Public Health, University and Hospital Trust of Verona, 37134 Verona, Italy. Electronic address: alessia.nottegar@univr.it. 2. 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. 3. Department of Diagnostics and Public Health, University and Hospital Trust of Verona, 37134 Verona, Italy; Department of Pathology, Santa Chiara Hospital, 38122 Trento, Italy. 4. Department of Thoracic Surgery, University of Turin, 10126 Turin, Italy. 5. Department of Molecular Biotechnology and Health Science and Center for Experimental Research and Medical Studies, University of Turin, 10126 Turin, Italy. 6. Medical Oncology, University and Hospital Trust of Verona, 37134 Verona, Italy. 7. Department of Diagnostics and Public Health, University and Hospital Trust of Verona, 37134 Verona, Italy. 8. Departments of Pathology and Pharmacology, Weill Cornell Cancer Center, Weill Cornell Medical College, Cornell University, 10065 New York, NY, USA.
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.
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.