About molecular profile of lung cancer in Tunisian patients

Mezni, Faouzi El; Mlika, Mona; Boussen, Hamouda; Ghedira, Habib; Fenniche, Samy; Faten, Talmoudi; Loriot, Marie‐Anne

doi:10.1080/15321819.2017.1407339

Cited by 5 publications

(7 citation statements)

References 11 publications

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“…ALK rearrangement was usually associated with young age, female gender, and a no- or light-smoking history [47,49]. A Tunisian study by Mezni et al [50] showed a prevalence of ALK rearrangement in six (7.14%) out of 84 patients using IHC, which differs fairly substantially from our findings. Furthermore, Liang et al [51] suggested that the incidence of ALK rearrangement in the Chinese population may be correlated with smoking status as they observed a lower prevalence in smokers (2.9%) than in non-smokers (7.2%).…”

Section: Discussioncontrasting

confidence: 74%

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: Discussioncontrasting

confidence: 74%

Analysis of Genetic Alterations in Tunisian Patients with Lung Adenocarcinoma

Dhieb

Belguith

Capelli

et al. 2019

Cells

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“…Regarding the “classic” mutations such as deletion in exon 19 and p.L858R, we found that 23.5% of our patients carried deletion in exon 19, which is in line with data from previous studies including those conducted on Tunisian patients [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ]. However, the p.L858R was identified in only four patients (11.7%), confirming once again the particularity of our cohort.…”

Section: Discussionsupporting

confidence: 91%

“…In fact, while Mraihi et al found 44% EGFR positive samples using IHC, Dhieb et al reported only one sample with the E746-A750 del19 mutation, using the same technique [ 26 , 27 ]. 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 ].…”

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%

“…Regarding B-raf mutation, the study of Mezni et al reported that among 41 patients screened by NGS, only 3 harbored mutations [ 28 ].…”

Section: Introductionmentioning

confidence: 99%

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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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