<i>KRAS</i> mutation in papillary fibroelastoma: a true cardiac neoplasm?

Wittersheim, Maike; Heydt, Carina; Hoffmann, Fabian; Büttner, Reinhard

doi:10.1002/cjp2.66

Cited by 21 publications

(9 citation statements)

References 23 publications

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“…Data analysis and mutation calling were performed as previously described. 41,42 The genes that were evaluated for mutations are shown in Supplemental Table S5.…”

Section: Ngs Datamentioning

confidence: 99%

Quantum Cascade Laser-Based Infrared Imaging as a Label-Free and Automated Approach to Determine Mutations in Lung Adenocarcinoma

Goertzen

Pappesch

Fassunke

et al. 2021

The American Journal of Pathology

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“…Data analysis and mutation calling were performed as previously described. 41,42 The genes that were evaluated for mutations are shown in Supplemental Table S5.…”

Section: Ngs Datamentioning

confidence: 99%

Quantum Cascade Laser-Based Infrared Imaging as a Label-Free and Automated Approach to Determine Mutations in Lung Adenocarcinoma

Goertzen

Pappesch

Fassunke

et al. 2021

The American Journal of Pathology

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“…Rebiopsies were evaluated for histology, presence of p.T790M, amplifications in MET or ERBB2, and mutations in KRAS, BRAF, PIK3CA, PTEN or CTNNB1. DNA extraction was done as described in detail previously [18].…”

Section: Study Populationmentioning

confidence: 99%

“…Multiplex PCR-based target enrichment was performed as described in detail previously [18,19] using a customized lung cancer panel covering 14 lung cancer related genes. Isolated DNA was amplified with an Ion Ampli-Seq Custom DNA Panel (Thermo Fisher Scientific, Waltham, MA, USA), and the Ion AmpliSeq Library Kit 2.0 (Thermo Fisher Scientific) according to the Ion Ampli-Seq Library Preparation User Guide (Thermo Fisher Scientific).…”

Section: Targeted Parallel Sequencingmentioning

confidence: 99%

Mutational spectrum of acquired resistance to reversible versus irreversible EGFR tyrosine kinase inhibitors

et al. 2020

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Background: Over the past years, EGFR tyrosine kinase inhibitors (TKI) revolutionized treatment response. 1stgeneration (reversible) EGFR TKI and later the 2nd-generation irreversible EGFR TKI Afatinib were aimed to improve treatment response. Nevertheless, diverse resistance mechanisms develop within the first year of therapy. Here, we evaluate the prevalence of acquired resistance mechanisms towards reversible and irreversible EGFR TKI. Methods: Rebiopsies of patients after progression to EGFR TKI therapy (> 6 months) were targeted to histological and molecular analysis. Multiplexed targeted sequencing (NGS) was conducted to identify acquired resistance mutations (e.g. EGFR p.T790M). Further, Fluorescence in situ hybridisation (FISH) was applied to investigate the status of bypass mechanisms like, MET or HER2 amplification. Results: One hundred twenty-three rebiopsy samples of patients that underwent first-line EGFR TKI therapy (PFS ≥6 months) were histologically and molecularly profiled upon clinical progression. The EGFR p.T790M mutation is the major mechanism of acquired resistance in patients treated with reversible as well as irreversible EGFR TKI. Nevertheless a statistically significant difference for the acquisition of T790M mutation has been identified: 45% of afatinib-vs 65% of reversible EGFR TKI treated patients developed a T790M mutation (p-value 0.02). Progression free survival (PFS) was comparable in patients treated with irreversible EGFR irrespective of the sensitising primary mutation or the acquisition of p.T790M. Conclusions: The EGFR p.T790M mutation is the most prominent mechanism of resistance to reversible and irreversible EGFR TKI therapy. Nevertheless there is a statistically significant difference of p.T790M acquisition between the two types of TKI, which might be of importance for clinical therapy decision.

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“…However, CPFs may also be inherited, as KRAS (Kirsten rat sarcoma viral oncogene homolog) mutations have been documented in up to 80% of lesions analyzed, suggesting that at least a subset of CPFs may be of primary neoplastic origin. 8 Echocardiography is the preferred method of diagnosis. CPFs most commonly affect cardiac valves (78%), especially the aortic valve (59%) followed by mitral leaflets (13%).…”

Section: Discussionmentioning

confidence: 99%