Secondary enucleated retinoblastoma with MYCN amplification.

Détails

ID Serval
serval:BIB_C20F515BFED4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Secondary enucleated retinoblastoma with MYCN amplification.
Périodique
Ophthalmic genetics
Auteur(s)
Moulin A.P., Stathopoulos C., Marcelli F., Schoumans Pouw J., Beck-Popovic M., Munier F.L.
ISSN
1744-5094 (Electronic)
ISSN-L
1381-6810
Statut éditorial
Publié
Date de publication
06/2021
Peer-reviewed
Oui
Volume
42
Numéro
3
Pages
354-359
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Background: Absence of RB1 mutation is rare in retinoblastoma and MYCN amplifications were recently identified in a subset of aggressive retinoblastomas occurring in infants. Here we describe not only the clinical phenotype of MYCN retinoblastoma at presentation, but also the tumor response to the first attempt of conservative management in this context.Methods: Interventional retrospective case reportResults: A 6-month-old boy was referred with right leukocoria. Examination under anesthesia revealed a group D unilateral retinoblastoma with an extensive whitish mass and total retinal detachment. Despite partial response following combined sequential intravenous and intra-arterial chemotherapy, tumor relapse in the aqueous humor occurred with posterior chamber involvement over 360°, this transiently controlled by intracameral and intravitreal melphalan injections. Eleven months post-diagnosis the eye was enucleated due to diffuse retinal recurrence invading the ciliary body and obscuring the optic nerve, associated with neovascular glaucoma. Histopathology revealed a poorly differentiated retinoblastoma with diffuse retinal invasion, extending from the superior ciliary body to the inferior equatorial choroid. There was post laminar optic nerve extension without involvement of the surgical margin. RB1 and diffuse MYCN nuclear expression were identified. FISH and SNP-array confirmed MYCN amplification. At 65 months follow-up the patient remained in good health without local recurrence or metastasis.Conclusions: To the best of our knowledge, this study is the first to attempt conservative management of an MYCN retinoblastoma, although secondary enucleation could not be avoided due to highly aggressive recurrence resisting all targeted modalities of chemotherapy.
Mots-clé
MYCN, Retinoblastoma, intra-arterial melphalan injection, intravitreal melphalan injection
Pubmed
Web of science
Création de la notice
26/04/2021 11:48
Dernière modification de la notice
27/06/2021 6:37
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