bioRxiv Science⌕ Search

Biology subjects

Laframboise, W.

Publications and source records attributed to Laframboise, W..

2 recordsLinked to original sources

Saturating hepatic clearance drives elevated cfDNA and fragment shortening in cancer

Liquid biopsy studies consistently report both elevated circulating cell-free DNA (cfDNA) concentrations and shortened fragment lengths in cancer. These features are often attributed to tumor-specific processes, despite tumor-derived cfDNA frequently constituting less than 1% of the total. Here, we consider an alternative explanation: Saturation of cfDNA clearance, which prolongs cfDNA circulation time, increases exposure to plasma nucleases and is expected to produce similar fragmentomic signatures independent of tumor burden. By combining a mechanistic model of cfDNA fragmentation with analyses of two independent cancer patient cohorts, and publicly available clearance-perturbation experiments, we demonstrate that elevated cfDNA levels are accompanied by a characteristic leftward shift in fragment length distributions consistent with impaired hepatic clearance. This fragmentation signature becomes more pronounced at higher cfDNA concentrations, is independent of circulating tumor DNA (ctDNA) fraction, is reproducible under experimentally reduced clearance, and is independently prognostic of patient survival. Together, these results identify saturating clearance as a central determinant of cfDNA abundance and fragment length, re-framing cancer-associated fragmentomic patterns as systemic consequences of clearance dynamics rather than tumor burden alone. More broadly, they highlight the value of mechanistic modeling of clearance processes in extracting clinically meaningful signals from cfDNA fragmentation data.

cancer biology↗

Modeling the effect of spatial structure on solid tumor evolution and ctDNA composition

Circulating tumor DNA (ctDNA) monitoring, while sufficiently advanced to reflect tumor evolution in real time and inform on cancer diagnosis, treatment, and prognosis, mainly relies on DNA that originates from cell death via apoptosis or necrosis. In solid tumors, chemotherapy and immune infiltration can induce spatially variable rates of cell death, with the potential to bias and distort the clonal composition of ctDNA. Using a stochastic evolutionary model of boundary-driven growth, we study how elevated cell death on the edge of a tumor can simultaneously impact driver mutation accumulation and the representation of tumor clones and mutation detectability in ctDNA. We describe conditions in which invasive clones end up over-represented in ctDNA, clonal diversity can appear elevated in the blood, and spatial bias in shedding can inflate subclonal variant allele frequencies (VAFs). Additionally, we find that tumors that are mostly quiescent can display similar biases, but are far less detectable, and the extent of perceptible spatial bias strongly depends on sequence detection limits. Overall, we show that spatially structured shedding might cause liquid biopsies to provide highly biased profiles of tumor state. While this may enable more sensitive detection of expanding clones, it could also increase the risk of targeting a subclonal variant for treatment. Our results indicate that the effects and clinical consequences of spatially variable cell death on ctDNA composition present an important area for future work.

cancer biology↗