Paliogiannis, Panagiotis (2014) EGFR mutational status in Sardinian patients with lung adenocarcinoma. Doctoral Thesis.
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Aim. Assessment of the EGFR mutational status has become in recent years a crucial step in the molecular classification of patients with lung cancer. The aim of this study was to investigate the EGFR mutational status in Sardinian patients with lung adenocarcinoma.
Materials and methods. Five-hundred fifteen Sardinian patients with histologically-proven lung adenocarcinoma were included into the study. Formalin-fixed paraffin embedded tissue samples were used for mutation analysis; the content of neoplastic cells was evaluated by light microscopy. Genomic DNA was isolated using a standard protocol and the coding sequence and splice junctions of exons 18, 19 and 21 in EGFR gene were screened for mutations by direct automated sequencing.
Results. The mean age of the patients examined was 64.9 years; 357 (69.3%) of them were males. Four-hundred twenty-nine (83.3%) tissue samples were obtained by transthoracic or endoscopic biopsy and the remaining by surgery. Four-hundred fifty-six (88.5%) samples were from primitive lung adenocarcinomas, while 59 (11.5%) were from metastatic lesions. EGFR mutations occurred in 59 cases (11.5%); exon 18 mutations were detected in 1 case (1.7%), whereas exon 19 and 21 mutations in 30 (51%) and 28 (47.3%) cases respectively. EGFR mutations, especially those of exon 19, were significantly more frequent in females and non-smokers than in males and smokers.
Conclusions. Proportions of EGFR mutations in Sardinian patients with lung adenocarcinoma were similar to those reported for other Caucasian populations. Females and non-smokers presented more frequently EGFR mutations, especially in exon 19, further confirming data from literature.
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