Diffuse Infiltrating Retinoblastoma with Anterior Chamber Involvement: Conservative Management and Identification of Alterations in Aqueous Humor.

INTRODUCTION

The aim of the study was to describe the successful conservative management of diffuse infiltrating retinoblastoma (DIR). Identification of pathogenic variant was done after cell-free DNA (cfDNA) analysis in aqueous humor.

CASE PRESENTATION

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 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.

CONCLUSION

In selected cases, conservative management of DIR is safe and effective. Tumor cfDNA analysis in aqueous humor is an effective technique to disclose somatic alterations that guide the germline molecular explorations and improve genetic counseling after conservative treatment.