Sensitive methods for the detection of an insertion in exon 20 of the HER2 gene in the metastasis of non-small cell lung cancer to the central nervous system

Krawczyk, Paweł; Nicoœ, Marcin; Powrózek, Tomasz; Mlak, Radosław; Sawicki, Marek; Jarosz, Bożena; Pająk, Beata; Kucharczyk, Krzysztof; D, Stencel; Trojanowski, Tomasz; Milanowski, Janusz

doi:10.3892/ol.2013.1495

Cited by 4 publications

(2 citation statements)

References 21 publications

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“…Unfortunately, data concerning evaluation of the KRAS gene status simultaneously in corresponding metastatic lesions and primary lung carcinomas are limited. In our study, the corresponding primary tumors were available only in 30 patients; however, it remains a considerable group in comparison with previous reports [ 13 , 18 – 23 ]. The KRAS gene mutations were detected in 7 primary tumors (23.4 %) that was in accordance with Kris, Bauml and Barlesi data obtained in higher groups of patients [ 6 , 20 , 21 ].…”

Section: Discussionmentioning

confidence: 97%

Analysis of KRAS and BRAF genes mutation in the central nervous system metastases of non-small cell lung cancer

et al. 2015

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KRAS mutations are associated with tumor resistance to EGFR TKIs (erlotinib, gefitinib) and to monoclonal antibody against EGFR (cetuximab). Targeted treatment of mutated RAS patients is still considered as a challenge. Inhibitors of c-Met (onartuzumab or tiwantinib) and MEK (selumetinib—a dual inhibitor of MEK1 and MEK2) signaling pathways showed activity in patients with mutations in KRAS that can became an effective approach in carriers of such disorders. BRAF mutation is very rare in patients with NSCLC, and its presence is associated with sensitivity of tumor cells to BRAF inhibitors (vemurafenib, dabrafenib). In the present study, the frequency and type of KRAS and BRAF mutation were assessed in 145 FFPE tissue samples from CNS metastases of NSCLC. In 30 patients, material from the primary tumor was simultaneously available. Real-time PCR technique with allele-specific molecular probe (KRAS/BRAF Mutation Analysis Kit, Entrogen, USA) was used for molecular tests. KRAS mutations were detected in 21.4 % of CNS metastatic lesions and in 23.3 % of corresponding primary tumors. Five mutations were identified both in primary and in metastatic lesions, while one mutation only in primary tumor and one mutation only in the metastatic tumor. Most of mutations were observed in codon 12 of KRAS; however, an individual patient had diagnosed a rare G13D and Q61R substitutions. KRAS mutations were significantly more frequent in adenocarcinoma patients and smokers. Additional analysis indicated one patient with rare coexistence of KRAS and DDR2 mutations. BRAF mutation was not detected in the examined materials. KRAS frequency appears to be similar in primary and CNS.

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Section: Discussionmentioning

confidence: 97%

Analysis of KRAS and BRAF genes mutation in the central nervous system metastases of non-small cell lung cancer

et al. 2015

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“…MSSCP displays higher sensitivity and reproducibility of distinct ssD-NA separations in comparison to classical SSCP. Its advantages were previously demonstrated in oncology and virology research (Krawczyk et al, 2013;Rybicka et al, 2014). We have shown that MSSCP analysis differentiated A(H1N1) influenza isolates and identified minor genetic variants undetectable by routine procedures (Pajak et al, 2011;Łepek et al, 2014).…”

Section: Native Electrophoresis Of Nucleic Acidsmentioning

confidence: 98%

Native nucleic acid electrophoresis as an efficient alternative for genotyping method of influenza virus.

Pająk

Łepek

2014

Acta Biochim Pol

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Influenza viruses are the worldwide major causative agents of human and animal acute respiratory infections. Some of the influenza subtypes have caused epidemics and pandemics among humans. The varieties of methods are available for the rapid isolation and identification of influenza viruses in clinical and environmental samples. Since nucleic acids amplification techniques such as RT-PCR have been adapted, fast and sensitive influenza type and subtype determination is possible. However, in some ambiguous cases other, more detailed assay might be desired. The genetic material of influenza virus is highly unstable and constantly mutates. It is known that single nucleotide polymorphisms (SNPs) results in resistance to commercially available anti-viral drugs. The genetic drift of the virus could also result in weakening of immune response to infection. Finally, in a substantial number of patients co-infection with various virus strains or types has been confirmed. Although the detection of co-infection or presence of minor genetic variants within flu-infected patients is not a routine procedure, a rapid and wide spectrum diagnostics of influenza virus infections could reveal an accurate picture of the disease and more importantly, is crucial for choosing the appropriate therapeutics and virus monitoring. Herein we present the evidences that native gel electrophoresis and MSSCP--a method based on multitemperature single strand conformation polymorphism could furnish a useful technique for minor variants, which escape discovery by conventional diagnostic assays.

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Prevalence of NRAS, PTEN and AKT1 gene mutations in the central nervous system metastases of non-small cell lung cancer

et al. 2017

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Somatic mutations in NRAS, PTEN and AKT1 genes are rarely (~1%) reported in primary NSCLC, but their role in carcinogenesis have been proven. Therefore, we assessed the frequency of them in 145 FFPE tissue samples from CNS metastases of NSCLC using the real-time PCR technique. We identified four (two NRAS and single AKT1 and PTEN) mutations in CNS metastases of NSCLC. All mutations were observed in current male smokers (4% out of the male group; 4/100 and 4.25% out of smokers; 4/94). Three mutations have been detected in patients with SqCC (10.3% out of SqCC patients; 3/29), and only one mutation in the NRAS gene—in a patient with adenocarcinoma (1.25% out of AC patients; 1/80). The examined genes were mutually exclusive in terms of molecular background in KRAS; EGFR; DDR2; PIK3CA; HER2 and MEK1 genes that were evaluated in our previous studies. The OS of the patients who harbored NRAS, AKT1 and PTEN mutations was 10.1, 12.1, 7.3 and 4 months, respectively (vs 13.5 months of the studied group). Our results suggest that the presence of NRAS, PTEN and AKT1 gene mutations may have an influence on the occurrence of CNS metastases in patients with SqCC.

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Sensitive methods for the detection of an insertion in exon 20 of the HER2 gene in the metastasis of non-small cell lung cancer to the central nervous system

Cited by 4 publications

References 21 publications

Analysis of KRAS and BRAF genes mutation in the central nervous system metastases of non-small cell lung cancer

Analysis of KRAS and BRAF genes mutation in the central nervous system metastases of non-small cell lung cancer

Native nucleic acid electrophoresis as an efficient alternative for genotyping method of influenza virus.

Prevalence of NRAS, PTEN and AKT1 gene mutations in the central nervous system metastases of non-small cell lung cancer

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