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Type presentatieE-poster
TitelNext-Generation Sequencing for Excised Conjunctival Naevi: Does More Data Equal Better Care?
DoelTo evaluate the benefits and risks of next-generation sequencing (NGS) in excised conjunctival naevi in children.
MethodesTwo pediatric cases of excised conjunctival naevi were reviewed.
ResultatenIn the first case (boy - 10y), NGS identified a BRAF V600E pathogenic variant in a histologically benign conjunctival naevus. Although BRAF V600E is also found in benign conjunctival naevi, the presence of an involved surgical margin caused uncertainty and concern for the patient’s parents. Following a multidisciplinary consultation with the department of Pathology and Medical Genetics, it was unanimously decided to classify this lesion as benign. Consequently, no wider resection or adjuvant therapy was performed. In the second case (girl – 13y), a MAP2K1 mutation and a pathogenic BRCA1 variant were detected in a melanocytic nevus. MAP2K1 alterations may occur in both benign and malignant melanocytic lesions. Further analysis showed a low BRAC1 variant allele frequency, which classified the mutation as somatic and not part of a germline mutation.
ConclusieNGS can provide valuable information about conjunctival melanocytic lesions. However, more molecular data does not automatically result in better clinical care. In histologically confirmed benign conjunctival naevi, the presence of BRAF V600E or MAP2K1 mutations does not always allow one to distinguish between benign and malignant disease. Therefore, NGS may increase uncertainty for both patients and surgeons. A multidisciplinary approach is essential for proper patient counseling.
BelangenverstrengelingNee
Auteurs 1
NaamVANDERMEULEN
InitialenM
InstituutDepartment of Ophthalmology, Ghent University Hospital
StadGhent
Auteurs 2
NaamDIMITRI
InitialenR
InstituutDepartment of Ophthalmology, Ghent University Hospital
StadGhent
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