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

Prevalence and Cause of Early Fontan Complications: Does the Lymphatic Circulation Play a Role?

Journal of the American Heart Association · 2020 · 67 citations

• Medicine
• Cardiology
• Internal medicine

=0.001). Conclusions There is substantial morbidity in the early post-Fontan period. Half of those who developed early complications had lymphatic failure or persistent effusions unrelated to structural or functional abnormalities. Preoperative T2 imaging demonstrated that patients with higher-grade lymphatic perfusion abnormalities were significantly more likely to develop early complications. This has implications for risk stratification and optimization of patients before Fontan palliation.