Diffuse Infiltrating Retinoblastoma with Anterior Chamber Involvement: Conservative Management and Identification of
Cell-free DNA
Conservative treatment
Diffuse infiltrating retinoblastoma
Intracamerular chemotherapy
Intravitreal chemotherapy
Liquid biopsy
RB1 mutation
Retinoblastoma
Retinoblastoma genetics
Journal
Ocular oncology and pathology
ISSN: 2296-4681
Titre abrégé: Ocul Oncol Pathol
Pays: Switzerland
ID NLM: 101656139
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
03
04
2023
accepted:
17
05
2023
medline:
30
10
2023
pubmed:
30
10
2023
entrez:
30
10
2023
Statut:
ppublish
Résumé
The aim of the study was to describe the successful conservative management of diffuse infiltrating retinoblastoma (DIR). Identification of Herein, we report 2 patients with unilateral, non-familial DIR with anterior and posterior involvement. Both patients underwent liquid biopsy for tumor cfDNA analysis in aqueous humor. Treatment consisted of a combination of systemic and intra-arterial chemotherapy, with consecutive intracameral and intravitreal injections of melphalan. One patient also required iodine-125 brachytherapy. In both cases, tumor cfDNA analysis revealed biallelic somatic alterations of the In selected cases, conservative management of DIR is safe and effective. Tumor cfDNA analysis in aqueous humor is an effective technique to disclose
Identifiants
pubmed: 37900191
doi: 10.1159/000531233
pii: 531233
pmc: PMC10601847
doi:
Types de publication
Journal Article
Langues
eng
Pagination
96-100Informations de copyright
© 2023 S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
Références
Ocul Oncol Pathol. 2017 Jul;3(2):129-132
pubmed: 28868284
Ophthalmology. 2006 Dec;113(12):2276-80
pubmed: 16996605
J Mol Diagn. 2021 Dec;23(12):1714-1721
pubmed: 34656762
Ophthalmic Genet. 2016;37(1):95-7
pubmed: 24892564
Ophthalmic Genet. 2022 Dec;43(6):862-865
pubmed: 36326029
Ophthalmology. 2008 Dec;115(12):2253-8
pubmed: 18962920
Arch Pathol Lab Med. 2009 Aug;133(8):1215-8
pubmed: 19653712
Ocul Oncol Pathol. 2016 Apr;2(3):128-32
pubmed: 27239450
Retina. 2000;20(2):217-9
pubmed: 10783961
Br J Ophthalmol. 2019 Jun;103(6):826-830
pubmed: 30049803