Advances in vascular anomalies: refining classification in the molecular era

Area of Science:

• Vascular biology and medicine
• Molecular genetics and diagnostics
• Pediatric oncology and hematology

Background:

• Vascular anomaly classification has evolved since Mulliken and Glowacki's initial framework.
• Molecular diagnostics are increasingly vital for accurate identification and management.
• Kaposiform hemangioendothelioma (KHE), Kaposiform lymphangiomatosis (KLA), and fast-flow anomalies present diagnostic challenges.

Purpose of the Study:

• To provide an updated analysis of select vascular anomalies, including KHE, KLA, and intramuscular fast-flow types.
• To explore the histopathological features and molecular underpinnings of these lesions.
• To review the role of PIK3CA mutations and emerging targeted therapies in precision medicine for vascular anomalies.

Main Methods:

• Literature review focusing on advancements in vascular anomaly classification and molecular diagnostics.
• Analysis of similarities and differences between KHE, KLA, and fast-flow vascular anomalies.
• Examination of genetic mutations within RAS/PI3K/mTOR pathways and their therapeutic implications.

Main Results:

• Key genetic mutations in RAS/PI3K/mTOR signalling pathways are identified in these vascular anomalies.
• PIK3CA mutations are significant in vascular overgrowth syndromes.
• Emerging targeted therapies, including PI3K and MEK inhibitors, show promise for improved patient outcomes.

Conclusions:

• Accurate diagnosis and optimal treatment of vascular anomalies require integrating histology, molecular diagnostics, and multidisciplinary care.
• Precision medicine approaches, utilizing targeted therapies, are transforming the management of complex vascular lesions.
• Continued research into molecular drivers and therapeutic strategies is essential for advancing patient care.