A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

ABSTRACT: Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since clinical management practices vary considerably among healthcare professionals and services across different countries, a consensus on management guidelines is needed. Clinical heterogeneity within this spectrum leads to challenges in establishing management recommendations, which must be based on patient-specific considerations. Moreover, as most of these conditions are rare, affec

SUBMITTER: Douzgou S 

PROVIDER: S-EPMC8664971 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature