Central Conducting Lymphatic Anomalies

Central conducting lymphatic anomaly (CCLA) represents a subtype within the spectrum of complex lymphatic anomalies (CLAs), characterized by aberrant development of central lymphatic vessels. Genetic variants affecting the PI3K/AKT/mTOR and RAS/mitogen-activated protein kinase (MAPK) pathways contribute to the etiology and progression of lymphatic anomalies in CCLA. Consistent with the clinical overlap of symptoms between CCLA and other types of CLAs, CCLA is frequently caused by a somatic variant within the same gene implicated in other CLAs. However, germline variants have also been reported in CCLA. Genetic understanding of CCLA facilitates targeted treatments and exemplifies genetics-driven precision medicine. Targeted medications have yielded improved interventions, particularly beneficial for refractory conditions unresponsive to conventional treatments. Nevertheless, the efficacy and safety of such therapies still need further investigation. We envision a promising future for CCLA patients driven by genomic technological advancements and innovative therapeutic approaches.