ReviewClinical genetics2022
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Review in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Tumour spectrum inJournal of medical genetics · 2025Pooled it
- Caring for Rare Genetic Disease: A Vision for the Future.Journal of genetic counseling · 2026Article
- Comparison of bone age between both limbs in patients with congenital hemihyperplasia or hemihypoplasia: A retrospective study.Journal of children's orthopaedics · 2026Article
- Pediatric Extremity Vascular Malformations: Diagnosis, Referral, and Limb Management from a Pediatric Orthopedic Perspective.Journal of clinical medicine · 2026Review
- Case Report: When benign overgrowth turns fatal in CLOVES syndrome: underestimated perioperative risk.Frontiers in medicine · 2026Article
- Effective Sirolimus Use in Prenatal and Postnatal Management of Symptomatic Extensive Congenital Capillary-Lymphatic-Venous Malformations (CLVMs): A Report of Two Cases.Paediatric drugs · 2025Article
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.Pediatric reports · 2025Article
- An Extremely Preterm Infant WithCase reports in genetics · 2025Article
- Article
- Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Orphanet journal of rare diseases · 2024Article
- Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant.Cureus · 2024Article
- Somatic Mosaicism inNeurology. Genetics · 2024Article
- Editorial: Molecular diagnostics of pediatric cancer, volume II.Frontiers in oncology · 2024Article
- Molecular mechanisms of human overgrowth and use ofFrontiers in genetics · 2024Review
- Uncovering somatic mosaic variants ofFrontiers in genetics · 2024Article
- Article
- An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.Orphanet journal of rare diseases · 2023Article
- PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly.Journal of surgical case reports · 2023Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 13 institutions in 7 countries.
Funding
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.