Cancers, Vol. 16, Pages 1565: Genetic Diagnosis of Retinoblastoma Using Aqueous Humour & mdash;Findings from an Extended Cohort

Cancers, Vol. 16, Pages 1565: Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort Cancers doi: 10.3390/cancers16081565 Authors: Amy Gerrish Chipo Mashayamombe-Wolfgarten Edward Stone Claudia Román-Montañana Joseph Abbott Helen Jenkinson Gerard Millen Sam Gurney Maureen McCalla Sarah-Jane Staveley Anu Kainth Maria Kirk Claire Bowen Susan Cavanagh Sancha Bunstone Megan Carney Ajay Mohite Samuel Clokie M. Ashwin Reddy Alison Foster Stephanie Allen Manoj Parulekar Trevor Cole The identification of somatic RB1 variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is unavailable, cell-free DNA (cfDNA) derived from aqueous humour (AH) can be used to identify somatic RB1 pathogenic variation. Here we report RB1 pathogenic variant detection, as well as cfDNA concentration in an extended cohort of 75 AH samples from 68 patients. We show cfDNA concentration is highly variable and significantly correlated with the collection point of the AH. Cell-free DNA concentrations above 5 pg/µL enabled the detection of 93% of known or expected RB1 pathogenic variants. In AH samples collected during intravitreal chemotherapy treatment (Tx), the yield of cfDNA above 5 pg/µL and subsequent variant detection was low (≤46%). However, AH collected by an anterior chamber tap after one to three cy...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research