ArticlePediatric blood & cancer2023
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
Article in Pediatric blood & cancer, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 17 citations in OpenAlex.
- RAS-PI3Kα signaling regulates KrasG12D-induced lymphangiogenesis in complex lymphatic anomalies.Disease models & mechanisms · 2026Article
- Kaposiform lymphangiomatosis-the effects of long-term treatment with sirolimus: case series study and review of the literature.Frontiers in medicine · 2026Article
- Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant.Pediatric blood & cancer · 2025Article
- MR Lymphangiography in Pediatrics: Indications, Technique, Findings, and Management.Seminars in interventional radiology · 2025Review
- A single-cell atlas of normal and KRASG12D-malformed lymphatic vessels.JCI insight · 2025Article
- Case Report: 3 cases of abdominal lesions with lower limb lymphedema-rare mutations in complex lymphatic anomalies.Frontiers in oncology · 2025Article
- Kaposiform Lymphangiomatosis as a Cause of Vaginal Bleeding & Discharge: A Case Report.Journal of pediatric and adolescent gynecology · 2024Article
- Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus.Orphanet journal of rare diseases · 2024Article
- Central conducting lymphatic anomaly: from bench to bedside.The Journal of clinical investigation · 2024Review
- Lymphatic malformations: mechanistic insights and evolving therapeutic frontiers.The Journal of clinical investigation · 2024Review
- Microsurgical central lymphatic reconstruction-the role of thoracic duct lymphovenous anastomoses at different anatomical levels.Frontiers in surgery · 2024Article
- Targeting lymphatic function in cardiovascular-kidney-metabolic syndrome: preclinical methods to analyze lymphatic function and therapeutic opportunities.Frontiers in cardiovascular medicine · 2024Review
- Hyperactive KRAS/MAPK signaling disrupts normal lymphatic vessel architecture and function.Frontiers in cell and developmental biology · 2023Article
- Genotype-directed Targeted Therapy for Pediatric Vascular Malformations: A Systematic Review.Journal of Indian Association of Pediatric SurgeonsReview
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
Complex lymphatic anomalies are debilitating conditions characterized by aberrant development of the lymphatic vasculature (lymphangiogenesis). Diagnosis is typically made by history, examination, radiology, and histologic findings. However, there is significant overlap between conditions, making accurate diagnosis difficult. Recently, genetic analysis has been offered as an additional diagnostic modality. Here, we describe four cases of complex lymphatic anomalies, all with PIK3CA variants but with varying clinical phenotypes. Identification of PIK3CA resulted in transition to a targeted inhibitor, alpelisib. These cases highlight the genetic overlap between phenotypically diverse lymphatic anomalies.
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