Congenital hepatic hemangiomas: Clinical, histologic, and genetic correlation

Area of Science:

• Pediatric Surgery
• Hepatology
• Dermatology

Background:

• Congenital hepatic hemangiomas (CHH) management varies by subtype and clinical behavior.
• Understanding CHH clinical, histologic, and genetic features is crucial for effective treatment.
• Comparison with cutaneous congenital hemangiomas (CCH) aids in characterizing CHH.

Purpose of the Study:

• To present a series of CHH cases.
• To characterize the clinical, histologic, and genetic profiles of CHH.
• To compare CHH with CCH.

Main Methods:

• Retrospective review of 16 CHH patients diagnosed between 1991 and 2018.
• Analysis of clinical, morphological, and histological data.
• Deep high-throughput sequencing for genetic analysis.

Main Results:

• CHH cases exhibited diverse management strategies including observation, medical therapy (corticosteroids, propranolol), surgery, and embolization.
• Histologic analysis revealed two distinct patterns in CHH.
• Somatic pathogenic variants in GNAQ and/or PIK3CA were identified in a subset of CHH patients, correlating with specific histological patterns.

Conclusions:

• CHH shares clinical similarities with CCH.
• Histologic examination can distinguish two CHH subgroups.
• Genetic testing confirms GNAQ and PIK3CA mutations in some CHH cases.