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Review
. 2022 Jan;101(1):32-47.
doi: 10.1111/cge.14027. Epub 2021 Jul 16.

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

Sofia Douzgou  1   2   3 , Myfanwy Rawson  2 , Eulalia Baselga  4 , Moise Danielpour  5   6 , Laurence Faivre  7 , Alon Kashanian  6 , Kim M Keppler-Noreuil  8 , Paul Kuentz  9 , Grazia M S Mancini  10 , Marie-Cecile Maniere  11 , Victor Martinez-Glez  12   13   14 , Victoria E Parker  15 , Robert K Semple  16 , Siddharth Srivastava  17 , Pierre Vabres  7 , Marie-Claire Y De Wit  18 , John M Graham Jr  19 , Jill Clayton-Smith  2   3 , Ghayda M Mirzaa  20 , Leslie G Biesecker  21
Affiliations
Review

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

Sofia Douzgou et al. Clin Genet. 2022 Jan.

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, 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.

Keywords: PIK3CA-related overgrowth spectrum; clinical management; expert consensus; mosaic.

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Conflict of interest statement

CONFLICT OF INTEREST STATEMENT

LGB is a member of the Illumina ethics advisory board. RKS consults for Novartis. The rest of the authors declare no conflict of interest.

Figures

Figure 1.
Figure 1.
Methods.
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References

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