ArticleOrphanet journal of rare diseases2024
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus.
Article in Orphanet journal of rare diseases, 2024. 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.
- Global research trends and basis of venous/lymphatic malformations during 2003-2023: a bibliometric study over two decades.Frontiers in medicine · 2025Pooled it
- Mimic of Peritoneal Carcinomatosis: Protein-Losing Enteropathy Revealing HRAS-Driven Generalized Lymphatic Anomaly.ACG case reports journal · 2026Article
- RAS Inhibitor RMC-7977 Blocks Vascular Overgrowth of NRASJournal of cellular and molecular medicine · 2026Article
- Imaging of complex lymphatic anomalies in children.Pediatric radiology · 2026Review
- MEK Inhibition Reduces Vascular Malformations and Gene Dysregulation in NRASPediatric blood & cancer · 2026Article
- Vascular malformations: from genetics to therapeutics.EMBO molecular medicine · 2026Review
- Trametinib normalizes angiopoietin-2 levels and successfully treats kaposiform lymphangiomatosis.Journal of vascular anomalies · 2025Article
- Molecular targeted treatment in infants with central conducting lymphatic anomalies.European journal of pediatrics · 2025Article
- Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders.International journal of molecular sciences · 2025Article
- Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study.JCEM case reports · 2025Article
- RAS Pathway Mutations and Therapeutics in Vascular Anomalies.Pediatric blood & cancer · 2025Review
- Targeted Therapies for Slow-Flow Vascular Malformations.The Australasian journal of dermatology · 2025Review
- Case Report: 3 cases of abdominal lesions with lower limb lymphedema-rare mutations in complex lymphatic anomalies.Frontiers in oncology · 2025Article
- Molecular landscape and classification of vascular anomalies.Hematology. American Society of Hematology. Education Program · 2024Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum of lymphatic malformations (LMs) that share similar oncogenic mutations to cancer. We report the case of a young patient with highly symptomatic CLA who was initially treated with sirolimus, due to the frequent involvement of the PI3K-AKT-mTOR pathway in CLA pathogenesis. Despite an initial reduction in symptoms, sirolimus progressively lost its effectiveness. After an unsuccessful attempt with trametinib alone, sirolimus was added to trametinib and resulted in a significant, rapid and sustained improvement in symptoms. This suggests that, contrary to current dogmas, combination therapy using sub-therapeutic doses targeting both the PI3K and RAS pathways retains efficacy without generating the toxicity known for combination therapies, and is beneficial in the management of CLAs and potentially other vascular anomalies.
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