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Presentation typeE-poster
TitleChromosomal difficienties and gene mutations in uveal melanoma
Purposeretrospective study on the results of genetic testing in uveal melanoma patients
Methodsretrospective study in 700 uveal melanoma patients.
ResultsIn 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
Conflict of interestNo
Authors 1
InitialsG
Last nameMissotten
DepartmentUZLeuven - Jessa ziekenhuis Hasselt
CityLeuven - Hasselt
Authors 2
InitialsD
Last nameThal
DepartmentUZLeuven - Pathology
CityLeuven
Authors 3
InitialsI
Last nameDe Clerck
DepartmentUZLeuven
CityLeuven
Authors 4
InitialsJ
Last nameVan Calster
DepartmentUZLeuven
CityLeuven
Authors 5
InitialsI
Last nameVan den Bempt
DepartmentUZLeuven - Clinical laboratory
CityLeuven
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