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TitreChoroidal melanoma in a Turner patient
Abstract Nr.2036
ButTo report the case of a choroidal melanoma in a Turner patient
MéthodesA case-report
RésultatsA 43 year-old female with Turner syndrome presented with myodesopsia and photopsia in her left eye. Her visual acuity was 1.0 RE and 0.1 LE. The right eye had a normal ophthalmological examination. Examination of the left eye showed a vitreous hemorrhage and a retinal detachment with underlying dark mass. Optic disc and tumor margin were not visible on fundoscopy. Ultrasound imaging showed an inferior retinal detachment and a mean reflective mushroom shaped mass. MRI confirmed the diagnosis of choroidal melanoma close to the optic disc.
Her left eye was enucleated. Pathological analysis confirmed the diagnosis of choroidal melanoma. Genetic analysis showed a complex karyotype with no anomaly of the chromosome 3 but a partial monosomy of the short arm and a partial trisomy of the long arm of the chromosome 8.
Turner syndrome is not associated with an increased risk of overall neoplasia. We found only two reported cases of choroidal melanoma associated with Turner syndrome. One was a case-report , the other one was mentioned in a general study of cancer incidence in women with Turner syndrome. They found 2 eye cancer: one melanoma and one myxoliposarcoma in 3425 Turner patients. Since they expected 0.2 case of eye tumor in a group of 3425 normal patients, they concluded that patients with Turner syndrome have an increased risk of developing eye tumors.
ConclusionTurner syndrome could be associated with a higher risk of choroidal melanoma. The fact that Turner patients present more melanocytic naevi than the general population can be an argument in favor of this hypothesis. Still, the incidence of both conditions is too low to take proper conclusions.
Auteur 1
NomLAUWERS
InitialesN
InstitutUZA
VilleEdegem
Auteur 2
NomDe Groot
InitialesV
InstitutUZA
VilleEdegem
Auteur 3
NomDe Keizer
InitialesRJW
InstitutUZA
VilleEdegem
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