Type presentatie | E-poster |
Titel | Chromosomal difficienties and gene mutations in uveal melanoma |
Doel | retrospective study on the results of genetic testing in uveal melanoma patients |
Methodes | retrospective study in 700 uveal melanoma patients. |
Resultaten | In 296 uveal melanoma patient a biopsy was taken. Chromosomal evaluation was effectively done in 159 patients and mutation testing with Next Generation Sequencing (NGS) was done in 214 patients. In 87 patients monosmy 3 was found (54%), and in 68 patients deviation in the chromosome 8 were found. NGS schowed a BAP mutation on the tumor tissue in 52 of 188 patients (28%). In 28% a GNAQ mutation was found, and in 25% a GNA11 mutation. Other mutations were IDH2, APC, KRAX, HRAS, NFI mutation in < 1% of patients. |
Conclusie | Biopsies can give in an increasing amount of cases a result on the genetic modifications of uveal melanoma. This can help in the determination of prognosis and future immunotherapy |
Belangenverstrengeling | Nee |
Initialen | G |
Naam | Missotten |
Instituut | UZLeuven - Jessa ziekenhuis Hasselt |
Stad | Leuven - Hasselt |
Initialen | D |
Naam | Thal |
Instituut | UZLeuven - Pathology |
Stad | Leuven |
Initialen | I |
Naam | De Clerck |
Instituut | UZLeuven |
Stad | Leuven |
Initialen | J |
Naam | Van Calster |
Instituut | UZLeuven |
Stad | Leuven |
Initialen | I |
Naam | Van den Bempt |
Instituut | UZLeuven - Clinical laboratory |
Stad | Leuven |