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Published on: January 19, 2019
Analysis of Genetic Alterations in Tunisian Patients with Lung Adenocarcinoma
Dhoha Dhieb1,2, Imen Belguith3, Laura Capelli4
1Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola 47014, Italy. dhoha.dhieb@gmail.com.
Abstract:
The identification of the mutations that drive lung cancer have furnished new targets for the treatment of non-small cell lung cancer (NSCLC) and led to the development of targeted therapies such as tyrosine kinase inhibitors that are used to combat the molecular changes promoting cancer progression. Furthermore, biomarkers identified from gene analysis can be used to detect early lung cancer, determine patient prognosis, and monitor response to therapy. In the present study we analyzed the molecular profile of seventy-three Tunisian patients with lung adenocarcinoma (LAD). Mutational analyses for EGFR and KRAS were performed using direct sequencing, immunohistochemistry or MassARRAY. Anaplastic lymphoma kinase (ALK) rearrangement was evaluated by immunohistochemistry using the D5F3 clone, and p53 expression was also assessed. The median age of patients at diagnosis was 61 years (range 23-82 years). Using different methodologies, EGFR mutations were found in 5.47% of patients and only exon 19 deletions "E746-A750 del" were detected. KRAS mutations were present in 9.58% of cases, while only one patient was ALK-positive. Moreover, abnormal immunostaining of p53 was detected in 56.16% of patients. In conclusion, the detected rates of EGFR and KRAS mutation and ALK rearrangement were lower than those found in European and Asian countries, whereas, abnormal p53 expression was slightly more frequent. Furthermore, given the small sample size of this study, a more comprehensive analysis of this patient set is warranted.
Insights
Molecular profiling of Tunisian lung adenocarcinoma patients revealed lower rates of EGFR and KRAS mutations and ALK rearrangement compared to European and Asian cohorts. Abnormal p53 expression was more frequent in this cohort.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Targeted therapies for non-small cell lung cancer (NSCLC) are developed based on identified cancer-driving mutations.
- Biomarkers aid in early lung cancer detection, prognosis, and therapy monitoring.
Purpose of the Study:
- To analyze the molecular profile of lung adenocarcinoma (LAD) in 73 Tunisian patients.
- To investigate the prevalence of EGFR, KRAS mutations, ALK rearrangement, and p53 expression.
Main Methods:
- Direct sequencing, immunohistochemistry, and MassARRAY were used for mutational analyses of EGFR and KRAS.
- Immunohistochemistry was employed to assess Anaplastic Lymphoma Kinase (ALK) rearrangement and p53 expression.
Main Results:
- EGFR mutations (exon 19 deletions) were detected in 5.47% of patients.
- KRAS mutations were present in 9.58% of cases, and one patient was ALK-positive.
- Abnormal p53 expression was observed in 56.16% of patients.
Conclusions:
- The study found lower rates of EGFR, KRAS mutations, and ALK rearrangement in Tunisian LAD patients compared to international data.
- Abnormal p53 expression was slightly more frequent in this cohort.
- Further comprehensive analysis is recommended due to the study's small sample size.
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