Avtor/Urednik		Unk, Mojca; Bombač, Alenka; Jezeršek Novaković, Barbara; Stegel, Vida; Šetrajčič Dragoš, Vita; Blatnik, Olga; Klančar, Gašper; Novaković, Srdjan
Naslov		Correlation of treatment outcome in sanger/RT-qPCR KIT/PDGFRA wild-type metastatic gastrointestinal stromal tumors with next-generation sequencing results
Tip		članek
Vol. in št.		Letnik 48, št. 3
Leto izdaje		2022
Obseg		str. 167-1-167-10
ISSN		1021-335X - Oncology reports
Jezik		eng
Abstrakt		In patients with gastrointestinal stromal tumors (GIST), it has become mandatory to determine the driver mutation in order to predict the response to standard treatment with tyrosine kinase inhibitors (TKI). A total of 10-15% of all GIST lack activating mutations in KIT proto-oncogene, receptor tyrosine kinase (KIT)/platelet-derived growth factor receptor alpha (PDGFRA) and have been classified as KIT/PDGFRA wild-type (WT) GIST. They are characterized by poor response to TKI. From a group of 119 metastatic GIST patients, 17 patients with KIT/PDGFRA/BRAF WT GIST as determined by reverse transcription-quantitative (RT-q) PCR and Sanger sequencing were profiled by a targeted next-gener- ation sequencing (NGS) approach and their treatment outcome was assessed. In the present study, 41.2% of patients as KIT/PDGFRA/BRAF WT GIST examined with RT-qPCR and Sanger sequencing were confirmed to be carriers of patho- genic KIT/PDGFRA mutations by NGS and were responsive to TKI. The percentage of genuinely KIT/PDGFRA WT GIST in the present study thereby dropped from the initial 14.3% detected with the RT-qPCR and Sanger sequencing to 7.6% after NGS. Their outcome was universally poor. The reli- ability of RT-qPCR and direct Sanger sequencing results in this setting is therefore insufficient and it is recommended that NGS becomes a requirement for treatment decision at least in KIT/PDGFRA/BRAF WT GIST as determined by RT-qPCR and Sanger sequencing
Proste vsebinske oznake		gastrointestinal stromal tumors imatinib tyrosine kinase inhibitors oncology gastrointestinalni stromalni tumorji imatinib zaviralci tirozin kinaze internistična onkologija