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Type de présentationE-poster
TitreChromosomal difficienties and gene mutations in uveal melanoma
Butretrospective study on the results of genetic testing in uveal melanoma patients
Méthodesretrospective study in 700 uveal melanoma patients.
RésultatsIn 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.
ConclusionBiopsies 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
Conflit d'intérêtNon
Auteurs 1
InitialesG
NomMissotten
InstitutUZLeuven - Jessa ziekenhuis Hasselt
VilleLeuven - Hasselt
Auteurs 2
InitialesD
NomThal
InstitutUZLeuven - Pathology
VilleLeuven
Auteurs 3
InitialesI
NomDe Clerck
InstitutUZLeuven
VilleLeuven
Auteurs 4
InitialesJ
NomVan Calster
InstitutUZLeuven
VilleLeuven
Auteurs 5
InitialesI
NomVan den Bempt
InstitutUZLeuven - Clinical laboratory
VilleLeuven
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