MET exon 14 mutations as targets in routine molecular analysis of primary sarcomatoid carcinoma of the lung. Saffroy, R., Fallet, V., Girard, N., Mazieres, J., Sibilot, D. M., Lantuejoul, S., Rouquette, I., Thivolet-Bejui, F., Vieira, T., Antoine, M., Cadranel, J., Lemoine, A., & Wislez, M. Oncotarget, 8(26):42428–42437, March, 2017.
MET exon 14 mutations as targets in routine molecular analysis of primary sarcomatoid carcinoma of the lung [link]Paper  doi  abstract   bibtex   2 downloads  
MET exon 14 splicing mutations are new targetable oncogenic drivers reported in 3% of non-small cell lung cancer (NSCLC) cases and have been shown to be more common in pulmonary sarcomatoid carcinomas (PSCs). This study sought to screen mutations affecting MET exon 14 splice sites in a large SC cohort of Caucasian patients, with a large adenocarcinoma cohort as internal control., We tested 81 patients with SC and 150 with adenocarcinoma for splice site DNA mutations leading to RNA splicing-based skipping of MET exon 14. To this end, we employed a mass spectrometry-based custom-designed PCR assay for routine analysis of whole MET exon 14 and flanking intronic regions using formalin-fixed paraffin-embedded (FFPE) tumor samples., Our results revealed a 4.9% mutation rate for MET exon 14 mutations in Caucasian SC patients, which is, though highly variable, within the usual range reported in NSCLC. Discrepancies with previous results reported in SC could be accounted for the small number of cases, ethnicity, epithelial component, and percentage of other driver mutations, such as KRAS, in the patient populations studied. Based on our study findings, SC patients should be screened for MET exon 14 mutations in the same manner as adenocarcinoma patients.
@article{saffroy_met_2017,
	title = {{MET} exon 14 mutations as targets in routine molecular analysis of primary sarcomatoid carcinoma of the lung},
	volume = {8},
	issn = {1949-2553},
	url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522077/},
	doi = {10.18632/oncotarget.16403},
	abstract = {MET exon 14 splicing mutations are new targetable oncogenic drivers reported in 3\% of non-small cell lung cancer (NSCLC) cases and have been shown to be more common in pulmonary sarcomatoid carcinomas (PSCs). This study sought to screen mutations affecting MET exon 14 splice sites in a large SC cohort of Caucasian patients, with a large adenocarcinoma cohort as internal control., We tested 81 patients with SC and 150 with adenocarcinoma for splice site DNA mutations leading to RNA splicing-based skipping of MET exon 14. To this end, we employed a mass spectrometry-based custom-designed PCR assay for routine analysis of whole MET exon 14 and flanking intronic regions using formalin-fixed paraffin-embedded (FFPE) tumor samples., Our results revealed a 4.9\% mutation rate for MET exon 14 mutations in Caucasian SC patients, which is, though highly variable, within the usual range reported in NSCLC. Discrepancies with previous results reported in SC could be accounted for the small number of cases, ethnicity, epithelial component, and percentage of other driver mutations, such as KRAS, in the patient populations studied. Based on our study findings, SC patients should be screened for MET exon 14 mutations in the same manner as adenocarcinoma patients.},
	number = {26},
	urldate = {2020-02-11},
	journal = {Oncotarget},
	author = {Saffroy, Raphaël and Fallet, Vincent and Girard, Nicolas and Mazieres, Julien and Sibilot, Denis Moro and Lantuejoul, Sylvie and Rouquette, Isabelle and Thivolet-Bejui, Françoise and Vieira, Thibaut and Antoine, Martine and Cadranel, Jacques and Lemoine, Antoinette and Wislez, Marie},
	month = mar,
	year = {2017},
	pmid = {28418914},
	pmcid = {PMC5522077},
	keywords = {Benchmark, Bundle, FFPE, Genomics, INDEL, Illumina Sequencer, NSCLC, Non-Small Cell Lung Cancer, Oncology, PSCs, Pulmonary Sarcomatoid Carcinomas, SOPHiA DDM, STS, Solid Tumor, Targeted, Thermo Fischer Sequencer},
	pages = {42428--42437},
}

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