Aim: ALK, ROS1, NTRK and RET gene fusions and MET exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. Materials & methods: In the present study, we report our NGS molecular records produced during a year of diagnostic activity. Results: Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored ALK and RET gene rearrangements, respectively: one case harbored ROS1 gene fusion (0.7%). Conclusion: Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.

Luca, C., Pepe, F., Pisapia, P., Iaccarino, A., Righi, L., Listi, A., et al. (2022). RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center. PERSONALIZED MEDICINE, 19(5), 395-401 [10.2217/pme-2022-0020].

RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center

Pagni F.;Cortinovis D. L.;
2022

Abstract

Aim: ALK, ROS1, NTRK and RET gene fusions and MET exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. Materials & methods: In the present study, we report our NGS molecular records produced during a year of diagnostic activity. Results: Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored ALK and RET gene rearrangements, respectively: one case harbored ROS1 gene fusion (0.7%). Conclusion: Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.
Articolo in rivista - Articolo scientifico
ALK; IHC; MET; molecular oncology; NGS; NSCLC; NTRK; predictive molecular pathology; RET; ROS1;
English
8-lug-2022
2022
19
5
395
401
none
Luca, C., Pepe, F., Pisapia, P., Iaccarino, A., Righi, L., Listi, A., et al. (2022). RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center. PERSONALIZED MEDICINE, 19(5), 395-401 [10.2217/pme-2022-0020].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/427907
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