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

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Douzgou, Sofia | Rawson, Myfanwy | Baselga, Eulalia | Danielpour, Moise | Faivre, Laurence | Kashanian, Alon | Keppler-Noreuil, Kim M. | Kuentz, Paul | Mancini, Grazia M. S. | Maniere, Marie Cecile | Martinez-Glez, Victor | Parker, Victoria E. | Semple, Robert K. | Srivastava, Siddharth | Vabres, Pierre | de Wit, Marie-Claire Y. | Graham, John M. | Clayton-Smith, Jill | Mirzaa, Ghayda M. | Biesecker, Leslie G.

Edité par CCSD -

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, affected families may lack access to the medical expertise that is needed to help address the multi-system and often complex medical issues seen with PROS. In March 2019, macrocephaly-capillary malformation (M-CM) patient organizations hosted an expert meeting in Manchester, United Kingdom, to help address these challenges with regards to M-CM syndrome. We have expanded the scope of this project to cover PROS and developed this consensus statement on the preferred approach for managing affected individuals based on our current knowledge.

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