Pathogenic variants in<i>PIK3CA</i>are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly

Pediatric Blood & Cancer · 2023 · 18 citations

• Medicine
• Pathology
• Radiology

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.

Genomic profiling informs diagnoses and treatment in vascular anomalies

Nature Medicine · 2023 · 60 citations

• Medicine
• Pathology
• Biology

Contrast-enhanced ultrasound in pediatric interventional radiology

Pediatric Radiology · 2021 · 23 citations

• Medicine
• Radiology

Management of Venous Malformations

Seminars in Interventional Radiology · 2021 · 29 citations

• Medicine
• Radiology
• Intensive care medicine

Abstract Venous malformations (VMs) are slow-flow, congenital vascular anomalies that are a result of vascular dysgenesis. Clinical presentation and morbidity depend on size, location, and association with other syndromes. VMs are the most common symptomatic vascular anomaly referred for intervention, usually due to thrombosis, swelling, mass effect, functional compromise, or cosmetic concerns. Treatment for larger lesions can be challenging and a multidisciplinary approach involving medical, interventional, and surgical input is critical for comprehensive care. This article will assist the interventional radiologist in patient assessment and will discuss current techniques for treatment, means to minimize adverse events, and expected outcomes.

Intramesenteric dynamic contrast pediatric MR lymphangiography: initial experience and comparison with intranodal and intrahepatic MR lymphangiography

European Radiology · 2020 · 58 citations

• Medicine
• Radiology
• Nuclear medicine