A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement
Year: 2021
Type: article
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.
Source: Clinical Genetics
DOI: 10.1111/cge.14027
Authors: Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M. S. Mancini, Marie‐Cecile Maniere, Victor Martinez‐Glez, Victoria E. Parker, Robert K. Semple, Siddharth Srivastava, Pierre Vabres, Marie‐Claire Y. De Wit, John M. Graham, Jill Clayton‐Smith, Ghayda M. Mirzaa, Leslie G. Biesecker
Institutions: Manchester Academic Health Science Centre, Haukeland University Hospital, University of Manchester, St Mary's Hospital, Hospital Sant Joan de Déu Barcelona, Cedars-Sinai Medical Center, CHU Dijon Bourgogne, University of Wisconsin–Madison, Centre Hospitalier Universitaire de Besançon, Erasmus MC, Hôpitaux Universitaires de Strasbourg, Hospital Universitario La Paz, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, NIHR Cambridge Biomedical Research Centre, The Queen's Medical Research Institute, University of Edinburgh, Boston Children's Hospital, Harvard University, Erasmus MC - Sophia Children’s Hospital, University of California, Los Angeles, University of Washington, National Institutes of Health, National Human Genome Research Institute
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,000
Awards: G1984085610, Causes and Consequences of Pathological Adipose Remodelling, Causes and Consequences of Pathological Adipose Remodelling, Intellectual and Developmental Disabilities Research Center, G6622335928, G7033118307, Megalencephaly and segmental brain overgrowth in humans, Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center, Rare & Mosaic Disorders - Clinical Research
OpenAlex ID: W3179366516