RESUMO
BACKGROUND/AIM: Gastrointestinal stromal tumours (GISTs) harbour genetic aberrations in receptor tyrosine kinase KIT (KIT) or platelet-derived growth factor receptor A (PDGFRA) in 85-90% of the patients. Circulating tumour DNA (ctDNA) is a potential biomarker in patients with GIST. Previous studies investigating ctDNA around surgery in patients with GIST presented divergent results regarding the proportion of patients with detectable ctDNA. This study aimed to 1) investigate the feasibility of detecting and monitoring ctDNA pre-and postoperative, 2) compare two different circulating free DNA (cfDNA) extraction methods, and validate results obtained by next-generation sequencing (NGS) using Real-Time PCR technology. PATIENTS AND METHODS: Eight patients planned for immediate surgery or surgery after neoadjuvant oncological treatment were included in the study, from whom blood collection was performed pre- and postoperatively for ctDNA analysis. Furthermore, blood samples from six patients with GIST harbouring a point mutation in KIT or PDGFRA in tissues from primary tumours were used for comparison and validation sub-study. RESULTS: In this explorative study, none of the patients with very low to intermediate risk GIST harboured KIT, or PDGFRA mutated ctDNA in pre-or postoperative blood samples. The methods used for cfDNA extraction gave similar output, and the two methods for ctDNA analysis gave identical results. CONCLUSION: There is no benefit in analysing ctDNA around surgery in very low to intermediate-risk GIST patients. Larger studies investigating ctDNA in patients with high-risk GIST around surgery are warranted.
Assuntos
Ácidos Nucleicos Livres , DNA Tumoral Circulante , Tumores do Estroma Gastrointestinal , Humanos , Tumores do Estroma Gastrointestinal/genética , Tumores do Estroma Gastrointestinal/cirurgia , Tumores do Estroma Gastrointestinal/patologia , DNA Tumoral Circulante/genética , Mutação , Receptores do Fator de Crescimento Derivado de Plaquetas , Proteínas Tirosina Quinases/genética , Proteínas Proto-Oncogênicas c-kit/genética , Proteínas Proto-Oncogênicas c-kit/metabolismo , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genéticaRESUMO
Problems with alcohol, marijuana and gambling are major public health challenges in Greenland but their prevalence in a hospital setting has not been explored. Healthcare facilities play a significant role in Greenland. One important aspect is their provision of both primary and secondary healthcare services to a small and scattered population while their potential as settings for screening for problems with alcohol, substances and gambling is an unexplored area with large public health potential. This study explored the prevalences of problems with alcohol, marijuana and gambling in a hospital and the potential for the use of a hospital as a setting for screening for alcohol, substance and gambling problems. Patients from the Northern Ilulissat Hospital filled in a self-administered questionnaire regarding their behaviour related to alcohol, marijuana and gambling. Data were weighted and compared to the nationally representative 2018 Health Survey. In the Ilulissat Survey, a large proportion were abstainers but there were still problems related to alcohol, marijuana and gambling indicating a potential for screening in a hospital setting. The results based on data from 2,554 respondents showed that prevalences of problems with alcohol, marijuana and gambling are lower in the Ilulissat Survey compared to the 2018 Health Survey.