Molecular Spectrum of <i>PIK3CA</i> Gene Mutations in Patients with Nonsmall-Cell Lung Cancer in Turkey

Ekinci, Sadiye; Ilgin-Ruhi, Hatice; Doğan, Mutlu; Gursoy, Semin; Sak, Serpil Dizbay; Demirkazık, Ahmet; Tükün, Ajlan

doi:10.1089/gtmb.2015.0060

Cited by 4 publications

(4 citation statements)

References 22 publications

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“…This pathogenic potential induced by the coexistence of both mutations was described also in non-small-cell lung cancer (NSCLC) with a locally advanced stage and with stage IV (Table 3). Therefore, the poor prognosis and the resistance to treatment in these patients might be related to other genetic alterations and factors [77]. In our patients therefore, no pathogenicity was recorded despite the coexistence of the two mutations in PIK3CA gene.…”

Section: Discussionmentioning

confidence: 58%

Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

Amri

Jèmaà

Miled³

et al. 2020

BioMed Research International

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Giant Cell Tumour of Bone (GCTB) is a rare bone tumour. Locally aggressive and recurrent, it might evolve into pulmonary metastases. Our present work is aimed at investigating the involvement of the epidermal growth factor receptor (ErbB) family and its downstream effectors in the development and recurrence of GCTB. For this purpose, we used a cohort of 32 GCTB patients and we evaluated the clinicohistological features and the expression of RANKL, EGFR, and HER2. The mutation status of KRAS, PI3KCA, and PTEN gene as potential oncogene involved in GCTB was also evaluated. We found a significant correlation between advanced histological stages, overexpression of EGFR/HER2, and tumour recurrence. Moreover, two mutations were found in the PIK3CA gene: a missense mutation, 1634A>C, detected for the first time in GCTB patients, without influencing the stability of the protein, and a frameshift mutation, c.1658_1659delGTinsC, causing the loss of the protein kinase domain. Altogether, these results suggest that overexpression of HER2/EGFR, Campanacci, and histological stages could be used as a novel prognostic marker for GCTB recurrence.

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Section: Discussionmentioning

confidence: 58%

Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

Amri

Jèmaà

Miled³

et al. 2020

BioMed Research International

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“…The concurrence of these two somatic mutations has been previously reported in large B cell lymphoma and non-small cell lung cancer [46–47]. Moreover, the concurrence of these mutations as germ-line mutations has been suggested to predispose to Cowden and Cowden like syndromes [48].…”

Section: Discussionmentioning

confidence: 95%

Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers

et al. 2016

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Male breast cancer (MBC) is a rare disease. Due to its rarity, MBC research and clinical approach are mostly based upon data derived from its largely known female counterpart. We aimed at investigating whether MBC cases harbor somatic alterations of genes known as prognostic biomarkers and molecular therapeutic targets in female breast cancer.We examined 103 MBC cases, all characterized for germ-line BRCA1/2 mutations, for somatic alterations in PIK3CA, EGFR, ESR1 and CCND1 genes.Pathogenic mutations of PIK3CA were detected in 2% of MBCs. No pathogenic mutations were identified in ESR1 and EGFR. Gene copy number variations (CNVs) analysis showed amplification of PIK3CA in 8.1%, EGFR in 6.8% and CCND1 in 16% of MBCs, whereas deletion of ESR1 was detected in 15% of MBCs. Somatic mutations and gene amplification were found only in BRCA1/2 mutation negative MBCs.Significant associations emerged between EGFR amplification and large tumor size (T4), ER-negative and HER2-positive status, between CCND1 amplification and HER2-positive and MIB1-positive status, and between ESR1 deletion and ER-negative status.Our results show that amplification of targetable oncogenes is frequent in BRCA1/2 mutation negative MBCs and may identify MBC subsets characterized by aggressive phenotype that may benefit from potential targeted therapeutic approaches.

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“…Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha is a potential therapeutic protein, and there are ongoing studies regarding the development of new drugs against the activity of PIK3CA. 3 , 20 In the literature, the frequency of PIK3CA mutation in NSCLC is reportedly 1-4%. 15 , 17 In a study in Turkey, the frequency of PIK3CA gene mutation was determined to be 7.5%, 20 which was 11% ( Table 6 ).…”

Section: Discussionmentioning

confidence: 99%

“… 3 , 20 In the literature, the frequency of PIK3CA mutation in NSCLC is reportedly 1-4%. 15 , 17 In a study in Turkey, the frequency of PIK3CA gene mutation was determined to be 7.5%, 20 which was 11% ( Table 6 ). The most common VSS was found in exon 10 (51.5%) followed by exon 21 (33.5%).…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer

et al. 2021

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Background Lung cancer is the most common cancer type worldwide, with non-small cell lung cancer being the most frequently studied. Identifying of cancer-related genes in non-small cell lung cancer is crucial for developing individualized treatment, particularly as mutation profiles can vary by country and ethnicity. Aims To identify comprehensive mutation profiles in a cohort of Turkish patients with non-small cell lung cancer using the next-generation sequencing. Study Design Retrospective cross-sectional study. Methods In total, 72 cancer-related genes and 4149 variants were recorded in the non-small cell lung cancer panel, and their relationship with clinical and histopathological features was investigated through next-generation sequencing. Results Among 507 patients, 420 (82.8%) were males and 87 (17.2%) were females. Percentages of phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (11%), B-Raf proto-oncogene, serine/threonine kinase (8%), and neurofibromatosis type 1 (6%) mutations were higher than those reported in the literature. Males had a higher rate of Kirsten rat sarcoma 2 viral oncogene homolog mutations ( P = .102), whereas epidermal growth factor receptor mutations were statistically more common in females ( P = .001). Multiple variants of strong significance were identified in 6.3% patients diagnosed with adenocarcinoma, most of whom were smokers. Kirsten rat sarcoma 2 viral oncogene homolog and phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha mutations were most commonly observed. Conclusion This study shows that Turkish patients have higher rates of PIK3CA, BRAF and NF1 mutations compared to the literature. Studies to determine the molecular profile specific to Turkish people will guide clinicians in treatment and contribute significantly to determining priorities in diagnosis.

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Molecular Spectrum of PIK3CA Gene Mutations in Patients with Nonsmall-Cell Lung Cancer in Turkey

Abstract: The high frequency of PIK3CA mutations exerts important clinical implications for targeted therapy. This finding indicates that therapeutic agents targeting the phosphatidylinositol 3-kinase (PI3K) would be beneficial in the NSCLC subpopulation.

Cited by 4 publications

References 22 publications

Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers

Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer

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