GNAQ – congenital hemangioma

Segmental congenital hemangiomas (CHs) are GLUT1-negative vascular tumors present at birth that can exhibit high-output cardiac failure and extracutaneous anomalies such as heterotaxy (PMID:32255239). In a series of three infants, one patient harbored a somatic GNAQ hotspot mutation c.626A>C (p.Gln209Pro) in lesional tissue, implicating aberrant Gαq signaling in CH pathogenesis. No germline transmission or familial segregation was observed, consistent with a postzygotic mosaic mechanism.

Genetic evidence for GNAQ in CH is currently limited to this single report of an activating p.Gln209Pro variant in one proband (n=1) (PMID:32255239), with no disease‐specific functional studies performed to date. Nevertheless, the identification of a recurrent Q209 mutation underscores the clinical utility of targeted genetic testing to refine diagnosis and guide management. Key Take-home: Somatic GNAQ p.Gln209Pro mutation supports the classification of segmental congenital hemangioma and merits integration into diagnostic workflows for vascular anomalies.

References

• Pediatric dermatology • 2020 • Segmental congenital hemangiomas: Three cases of a rare entity. PMID:32255239

Evidence Based Scoring (AI generated)