AI Article Synopsis

  • Identifying somatic variations is essential for proving the heritability of retinoblastoma, and cell-free DNA (cfDNA) from aqueous humour (AH) can help when tumor DNA isn't available.
  • In a study of 75 AH samples from 68 patients, researchers found that cfDNA concentration varies greatly and correlates with when the AH is collected.
  • Early sampling after a few cycles of chemotherapy significantly improves cfDNA concentration and enables the detection of a high percentage of expected pathogenic variants, highlighting its importance in patient treatment.

Article Abstract

The identification of somatic 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 pathogenic variation. Here we report 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 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 cycles of primary chemotherapy (Dx1+) enabled the detection of 75% of expected pathogenic variants. Further limiting our analysis to Dx1+ samples taken after ≤2 cycles (Dx ≤ 2) provided measurable levels of cfDNA in all cases, and a subsequent variant detection rate of 95%. Early AH sampling is therefore likely to be important in maximising cfDNA concentration and the subsequent detection of somatic pathogenic variants in retinoblastoma patients undergoing conservative treatment.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11049382PMC
http://dx.doi.org/10.3390/cancers16081565DOI Listing

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