ArticleAmerican journal of medical genetics. Part A2018
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Detection ofBiomolecules · 2021Trial
- Ultra-deep targeted next-generation sequencing with peripheral blood in patients with vascular malformations: a cohort of 40 patients.Molecular biology reports · 2025Article
- Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.Orphanet journal of rare diseases · 2023Article
- RecurrentCurrent issues in molecular biology · 2023Article
- Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.Brain : a journal of neurology · 2022Article
- Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.Journal of the American Heart Association · 2022Article
- A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.Orphanet journal of rare diseases · 2021Review
- Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.BMC bioinformatics · 2021Article
- Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.Orphanet journal of rare diseases · 2020Article
- PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
- A girl with CLOVES syndrome with a recurrentHuman genome variation · 2019Article
- Adding to Your Tool Box: Laser Therapy for Vascular Anomalies.Pediatric dermatologyReview
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
PIK3CA-related overgrowth spectrum (PROS) refers to a group of disorders of segmental overgrowth of a wide variety of tissues as well as venous and lymphatic malformations. Clinical and molecular diagnosis can be challenging due to phenotypic heterogeneity and difficulties detecting low-level mosaicism using standard methods. Here, we report a patient with a severe presentation of PIK3CA-related overgrowth with analysis of 27 posthumously collected tissues by droplet digital polymerase chain reaction (PCR) at autopsy. This patient had a complicated medical course, with coagulopathy, ischemic brain injury, and sepsis resulting in multi-organ failure and death at age 2 months despite sirolimus therapy. Five of the 27 tissues analyzed possessed a mosaic PIK3CA mutation (p.E545K), with mutation levels ranging from 3 to 20% across affected tissues. We found no correlation between tissue-specific disease severity and mutation levels, likely reflecting sampling limitations. We also tested a series of 22 individuals with somatic overgrowth and/or vascular-lymphatic malformations using a targeted next generation sequencing panel and found PIK3CA mutations in nine individuals, identifying three novel PIK3CA variants. This report expands the clinical and molecular spectrum of PROS, emphasizes that different molecular methods can be complimentary in the diagnosis of these disorders, and highlights the risk of coagulopathy in a subset of patients with PIK3CA-related overgrowth.
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