Presentation type | E-poster |
Title | Chromosomal difficienties and gene mutations in uveal melanoma |
Purpose | retrospective study on the results of genetic testing in uveal melanoma patients |
Methods | retrospective study in 700 uveal melanoma patients. |
Results | 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. |
Conclusion | 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 |
Conflict of interest | No |
Initials | G |
Last name | Missotten |
Department | UZLeuven - Jessa ziekenhuis Hasselt |
City | Leuven - Hasselt |
Initials | D |
Last name | Thal |
Department | UZLeuven - Pathology |
City | Leuven |
Initials | I |
Last name | De Clerck |
Department | UZLeuven |
City | Leuven |
Initials | J |
Last name | Van Calster |
Department | UZLeuven |
City | Leuven |
Initials | I |
Last name | Van den Bempt |
Department | UZLeuven - Clinical laboratory |
City | Leuven |