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Identification of Epidermal Growth Factor Receptor Mutations and Anaplastic Lymphoma Kinase Gene Rearrangement in Lung Adenocarcinomas

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Objective: The identification of molecular alterations has an important therapeutic implication in lung adenocarcinoma patients. Herein, we presented our experience with the identification of epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase(ALK) mutations in primary and metastatic lung adenocarcinomas.

Methods: Epidermal growth factor receptor mutations in exons 18, 19, 20 and 21 were evaluated by pyrosequencing. A total of 101 cases of lung adenocarcinomas, including 64 primary and 37 metastatic tumours were studied. Mutation analyses were performed on six cell blocks obtained from fine-needle aspiration, 64 small biopsies and 31 resection materials. For ALK gene rearrangement, 23 of 101 cases with no EGFR mutation were evaluated by fluorescence in situ hybridization using an ALK break-apart probe.

Results: The median age of the 101 patients was 61 years (range, 33–85 years). Among the patient population, 19 patients were female. Epidermal growth factor receptor mutations were found in 12 of 101 patients (11.8%), with five primary tumours (41.7%) and seven metastatic tumours (lymph node, pleura, brain, liver; 58.3%), and four of these 12 patients (33.3%) were female. A total of six patients with delE746-A750 (exon 19), three patients with delE747-A750insP (exon 19), two patients with L858R (exon 21), and one patient with Gly719Ser; L861Q (exon 18; 21) were noted. Anaplastic lymphoma kinase mutation gene rearrangement was evident in 4 of 23 patients (17.4%): one (25%) was female and had primary tumor and three (75%) were male and had metastatic tumours.

Conclusion: Metastatic adenocarcinomas demonstrated EGFR mutation more than primary tumours; therefore, repeating molecular testing in metastatic lung adenocarcinomas may uncover newly acquired molecular alterations.



08 May, 2018
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e-Published: 15 Feb, 2019


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