In:
Ocular Oncology and Pathology, S. Karger AG, Vol. 9, No. 3-4 ( 2023), p. 96-100
Abstract:
〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 The aim of the study was to describe the successful conservative management of diffuse infiltrating retinoblastoma (DIR). Identification of 〈 i 〉 RB1 〈 /i 〉 pathogenic variant was done after cell-free DNA (cfDNA) analysis in aqueous humor. 〈 b 〉 〈 i 〉 Case presentation: 〈 /i 〉 〈 /b 〉 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 〈 i 〉 RB1 〈 /i 〉 gene. These alterations were not found in germline DNA. Both patients retained their eyes and had a useful vision after a follow-up of 2 years. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 In selected cases, conservative management of DIR is safe and effective. Tumor cfDNA analysis in aqueous humor is an effective technique to disclose 〈 i 〉 RB1 〈 /i 〉 somatic alterations that guide the germline molecular explorations and improve genetic counseling after conservative treatment.
Type of Medium:
Online Resource
ISSN:
2296-4681
,
2296-4657
Language:
English
Publisher:
S. Karger AG
Publication Date:
2023
detail.hit.zdb_id:
2806965-1
