Arteriovenous malformation associated with a HRAS mutation
2019; Springer Science+Business Media; Volume: 138; Issue: 11-12 Linguagem: Inglês
10.1007/s00439-019-02072-y
ISSN1432-1203
AutoresDennis J. Konczyk, Jeremy A. Goss, Patrick Smits, August Yue Huang, Alyaa Al‐Ibraheemi, Christopher L. Sudduth, Matthew L. Warman, Arin K. Greene,
Tópico(s)Histiocytic Disorders and Treatments
ResumoThe majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and found a HRAS mutation (p.Thr58_Ala59delinsValLeuAspVal). Mutant allelic frequency was 5% in whole tissue and 31% in isolated endothelial cells (ECs); the mutation was not present in blood DNA or non-ECs. Somatic mutations in HRAS can cause AVM.
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