Impact of tissue type and content of neoplastic cells of samples on the quality of epidermal growth factor receptor mutation analysis among patients with lung adenocarcinoma

Paliogiannis,Panagiotis; Attene,Federico; Cossu,Antonio; Defraia,Efisio; Porcu,Giuseppe; Carta,Annamaria; Sotgiu,Maria  Ignazia; Pazzola,Antonio; Cordero,Lorenzo; Capelli,Francesca; Fadda,Giovanni  Maria; Ortu,Salvatore; Sotgiu,Giovanni; Palomba,Grazia; Sini,Maria   Cristina; Palmieri,Giuseppe; Colombino,Maria

doi:10.3892/mmr.2015.3347

Impact of tissue type and content of neoplastic cells of samples on the quality of epidermal growth factor receptor mutation analysis among patients with lung adenocarcinoma

Authors:
- Panagiotis Paliogiannis
- Federico Attene
- Antonio Cossu
- Efisio Defraia
- Giuseppe Porcu
- Annamaria Carta
- Maria Ignazia Sotgiu
- Antonio Pazzola
- Lorenzo Cordero
- Francesca Capelli
- Giovanni Maria Fadda
- Salvatore Ortu
- Giovanni Sotgiu
- Grazia Palomba
- Maria Cristina Sini
- Giuseppe Palmieri
- Maria Colombino
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Affiliations: Department of Surgical, Microsurgical and Medical Sciences, University of Sassari, Sassari 07100, Italy, Pathology and Oncology Unit, Businco Oncological Hospital, Cagliari 09121, Italy, Medical Oncology Unit, Local Health Unit (Azienda Sanitaria Locale), Sassari 07100, Italy, Clinical Pulmonology and Tisiology Unit, Hospital‑University (Azienda Ospedaliero Universitaria), Sassari 07100, Italy, Medical Oncology Unit, 'Zonchello' Hospital, Nuoro 08100, Italy, Medical Oncology Unit, 'San Giovanni di Dio' Hospital, Olbia 07026, Italy, Epidemiology and Medical Statistics Unit, Department of Biomedical Sciences, University of Sassari, Sassari 07100, Italy, Unit of Cancer Genetics, Institute of Biomolecular Chemistry, National Research Council (Consiglio Nazionale delle Ricerche), Sassari 07100, Italy
Published online on: February 12, 2015 https://doi.org/10.3892/mmr.2015.3347
Pages: 187-191
Copyright: © Paliogiannis et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

Assessment of the epidermal growth factor receptor (EGFR) mutational status has become crucial in recent years in the molecular classification of patients with lung cancer. The impact of the type and quantity of malignant cells of the neoplastic specimen on the quality of mutation analysis remains to be elucidated, and only empirical and sporadic data are available. The aim of the present study was to investigate the impact of tissue type and content of neoplastic cells in the specimen on the quality of EGFR mutation analysis among patients with lung adenocarcinoma. A total of 515 patients with histologically‑confirmed disease were included in the present study. Formalin‑fixed paraffin embedded tissue samples were used for the mutation analysis and the content of the neoplastic cells was evaluated using light microscopy. Genomic DNA was isolated using a standard protocol. The coding sequences and splice junctions of exons 18, 19 and 21 in the EGFR gene were then screened for mutations by direct automated sequencing. The mean age of the patients examined was 64.9 years and 357 (69.3%) were male. A total of 429 tissue samples (83.3%) were obtained by biopsy and the remaining samples were obtained by surgery. A total of 456 samples (88.5%) were observed from primary lung adenocarcinomas, while 59 (11.5%) were from metastatic lesions. EGFR mutations occurred in 59 cases (11.5%); exon 18 mutations were detected in one case (1.7%), whereas exon 19 and 21 mutations were detected in 30 (51%) and 28 (47.3%) cases, respectively. EGFR mutations were more frequent in females and patients that had never smoked. The distribution of the mutations among primary and metastatic tissues exhibited no significant differences in the proportions of EGFR mutations detected. However, a statistically significant difference in the number of mutations detected was found between samples with at least 50% of neoplastic cells (450 cases‑57 mutations; 12.7%) and those with <50% of neoplastic cells (65 cases‑2 mutations; 3.1%).

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