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Type presentatieE-poster
TitelChromosomal difficienties and gene mutations in uveal melanoma
Doelretrospective study on the results of genetic testing in uveal melanoma patients
Methodesretrospective study in 700 uveal melanoma patients.
ResultatenIn 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.
ConclusieBiopsies 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
BelangenverstrengelingNee
Auteurs 1
InitialenG
NaamMissotten
InstituutUZLeuven - Jessa ziekenhuis Hasselt
StadLeuven - Hasselt
Auteurs 2
InitialenD
NaamThal
InstituutUZLeuven - Pathology
StadLeuven
Auteurs 3
InitialenI
NaamDe Clerck
InstituutUZLeuven
StadLeuven
Auteurs 4
InitialenJ
NaamVan Calster
InstituutUZLeuven
StadLeuven
Auteurs 5
InitialenI
NaamVan den Bempt
InstituutUZLeuven - Clinical laboratory
StadLeuven
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