Cohort study
Genomic profiling informs diagnoses and treatment in vascular anomalies
- Cohort study
Study context
- Population
- Participants with vascular anomalies; DNA from CD31+ cells from lymphatic fluid or cell-free DNA from lymphatic fluid or plasma underwent ultra-deep sequencing
- Participants
- 356 participants
- Exposure
- Primary complex lymphatic anomalies (pCLAs) vs Other vascular malformations
- pCLAsn = 104
Main finding
As reported in the abstract
Molecular diagnosis obtained
- Pathogenic somatic variants detected down to a variant allele fraction of
- 0.15%
Observational data: associations, not effects.
Further findings
New medical therapy after molecular diagnosis
- New medical therapy
- 63% (43/69)
Improvement on therapy
- Improvement among participants on therapy
- 63% (35/55)
Original publication
Genomic profiling informs diagnoses and treatment in vascular anomalies. Nat Med. Published 1 June 2023. doi:10.1038/s41591-023-02364-x
Summarised from the published abstract; every number is checked against it