Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Conclusion
We confirm that (1) molecular diagnostic yield increases when multiple tissues are tested and by enriching NGS panels with genes of overlapping ‘vascular’ phenotypes; (2) strongly activating PIK3CA variants are found in affected tissue, rarely in blood: conversely, weakly activating mutations more common in blood; (3) weakly activating variants correlate with CNS involvement, strong variants are more common in cases without; (4) patients with vascular malformations overlapping those of PROS can harbour variants in genes other than PIK3CA.

Source: Journal of Medical Genetics - January 24, 2023 Category: Genetics & Stem Cells Authors: Mussa, A., Leoni, C., Iacoviello, M., Carli, D., Ranieri, C., Pantaleo, A., Buonuomo, P. S., Bagnulo, R., Ferrero, G. B., Bartuli, A., Melis, D., Maitz, S., Loconte, D. C., Turchiano, A., Piglionica, M., De Luisi, A., Susca, F. C., Bukvic, N., Forleo, C., Tags: Genotype-phenotype correlations Source Type: research