Assessment of EGFR mutation status in Tunisian patients with pulmonary adenocarcinoma

Toumi, Amira Arfaoui; Blel, Ahlem; Aloui, Raoudha; Zaibi, H.; Ksentinini, M.; Boudaya, Mohamed Sadok; Znaidi, Nadia; Zidi, Y; Aouina, H.; Rommani, Soumaya Rammeh

doi:10.1016/j.retram.2018.02.004

Cited by 12 publications

(6 citation statements)

References 43 publications

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“…This incidence was similar to that found in European countries [35]. Furthermore, our results were in agreement with data from a recent Tunisian study by Arfaoui et al on EGFR mutations determined by Therascreen EGFR RGQ PCR kit (Qiagen) [36] where the authors reported an incidence of 11.5% (3/26 cases) in LAD patients. Conversely, we did not detect any EGFR mutations using Sanger sequencing, which could be attributed to the low sensitivity and need for high-quality tumor samples of this technology [37].…”

Section: Discussionsupporting

confidence: 93%

Analysis of Genetic Alterations in Tunisian Patients with Lung Adenocarcinoma

Dhieb

Belguith

Capelli

et al. 2019

Cells

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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.

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Section: Discussionsupporting

confidence: 93%

Analysis of Genetic Alterations in Tunisian Patients with Lung Adenocarcinoma

Dhieb

Belguith

Capelli

et al. 2019

Cells

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“…Another study evaluating the molecular profile of 87 NSCLC samples by qPCR or NGS found that 18.4% of patients had EGFR activating mutations (12 cases with the exon 19 deletions and 4 patients carrying the p.L858R) [ 28 ]. In addition, Arfaoui et al showed that 3 out of the 26 analyzed samples harbor two sensitizing mutations (exon 19 deletion and p.G719X) and one exon 20 insertion associated with de novo resistance to targeted EGFR inhibitors and correlate with a poor patient prognosis [ 29 ]. Altogether, these findings support the heterogeneity in the prevalence of EGFR mutations among populations.…”

Section: Discussionmentioning

confidence: 99%

“…In Tunisian NSCLC patients, only few studies have investigated the EGFR and B-raf mutations. Using different methods such as immunohistochemistry, QPCR, or NGS, the percentage of EGFR mutations varied from 18.4 to 44% [ 26 , 27 , 28 , 29 ]. The most frequent mutations were exon 19 deletions and the p.L858R in exon 21 [ 27 , 28 , 29 ].…”

Section: Introductionmentioning

confidence: 99%

Predominance of the Rare EGFR Mutation p.L861Q in Tunisian Patients with Non-Small Cell Lung Carcinoma

Abdelmaksoud‐Dammak

Ammous-Boukhris

Saadallah-Kallel

et al. 2022

Genes

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Objectives: Several new cancer therapies targeting signaling pathways involved in the growth and progression of cancer cells were developed as personalized medicine. Our study aimed to identify epidermal growth factor receptor (EGFR) mutations for TKI treatment in non-small-cell lung cancer (NSCLC) Tunisian patients. Methods: Analysis of the TKI sensitivity mutations in exons 18 to 21 of the EGFR gene and exon 15 of the B-raf gene was performed in 79 formalin fixed-paraffin embedded (FFPE) NSCLC samples using pyrosequencing. Results: EGFR mutations were detected in 34 cases among 79 (43%), with the predominance of the L861Q in exon 21 found in 35.3% of the cases (12 out of 34). Deletions in exon 19 were found in 8 cases (23.5%), and only one young male patient had the T790M mutation. Three patients harbored composite EGFR mutations (p.E746_A750del/p.L861R, p.E746_S752>V/p.S768I, and p.G719A/p.L861Q). Furthermore, the EGFR mutated status was significantly more frequent in female patients (p = 0.019), in non-smoker patients (p = 0.008), and in patients with metastasis (p = 0.044). Moreover, the B-raf V600E was identified in 5 EGFR negative patients among 39 analyzed samples (13.15%). Conclusion: The p.L861Q localized in exon 21 of the EGFR gene was the most common mutation identified in our patients (35.3%), whereas the “classic” EGFR mutations such as Del19 and p.L858R were found in 23.5% and 11.7% of the cases, respectively. Interestingly, most of p.L861X mutation-carrying patients showed good response to TKI treatment. Altogether, our findings suggest a particular distribution of the EGFR-TKIs sensitivity mutations in Tunisian NSCLC patients.

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“…Данные литературы свидетельствуют о более низкой частоте встречаемости драйверных мутаций в этом гене -5,5-10% [10,13].…”

Section: таблица 2 молекулярный портрет нмрл в тамбовской области (2unclassified

“…Эти данные несколько выше распространенности в когорте европеоидной расы и меньше относительно восточноазиатской [9]. В Тунисе активирующие мутации EGFR обнаружены у 11,5% пациентов с аденокарциномой легких, а положительная экспрессия ALK выявлена в 9,1% случаев [10].…”

Section: Introductionunclassified

Molecular genetic portrait of non-small cell lung cancer in Tambov region: regional experience

et al. 2020

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8090%. The identification of gene mutation profile of non-small cell cancer allows to make a molecular portrait, which plays the crucial role in choosing the targeted therapy with tyrosine kinase inhibitors. The aimis to study the frequency and spectrum of activating mutations in non-small cell lung cancer in Tambov region. The study of the presence of mutations and the main driver gene mutation profile: EGFR, ALK, BRAF, ROS1 and PDL-1 using sections of paraffin-embedded after the surgery and biopsy in 238 patients with the help of polymerase chain reaction and immunohistochemistry. The age of patients ranged from 28 years to 82 years, with a mean age of 60.3 years. Results.Adenocarcinoma was detected in 80.3% of patients, and squamous cell variant in 19.7% of cases. The frequency of the driver gene activating mutations in non-small cell lung cancer was 29%, this index exceeded the frequency in the European population. Statistically significant predominance of female (63.6%) vs male (36.4%) was achieved. The mutation frequency increases with age. In this case, EGFR mutations were observed more often 22.3%. This index was slightly higher than in the European population. Statistically significant predominance of female was achieved. The highest frequency of mutations was demonstrated in patients 6570 years of age (24%). The deletion of exon 19 and single-nucleotide replacement L858R of exon 21 were observed in 54.5% and 45.5% of cases, respectively. The mutation of exon 19 was more often detected in male, at the same time the mutations of exons 19 and 21 in female were detected in almost the same frequency. Maximum frequency mutation rate (77.7%) in the EGFR gene was detected free from metastases to the regional lymph nodes. ALK mutations were found in 14.6% of patients, this index was slightly higher than the European level. PDL-1 expression is found in 40% male patients. Conclusion.The results of the study revealed some features of the profile of activating mutations in non-small cell lung cancer in the region. This data should be taken into account on planning and applying targeted therapy.

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Assessment of EGFR mutation status in Tunisian patients with pulmonary adenocarcinoma

Cited by 12 publications

References 43 publications

Analysis of Genetic Alterations in Tunisian Patients with Lung Adenocarcinoma

Analysis of Genetic Alterations in Tunisian Patients with Lung Adenocarcinoma

Predominance of the Rare EGFR Mutation p.L861Q in Tunisian Patients with Non-Small Cell Lung Carcinoma

Molecular genetic portrait of non-small cell lung cancer in Tambov region: regional experience

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