Article
Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Nonmalignant Lesions.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Mar 2026
Nguyen Brian, Gillentine Madelyn A, Myers Candace T, Bhatia Sofia, Narayanan Jaya, Rogge Larissa, Emery Louisa, Perkins Jonathan, Eng Whitney, Wandler Anica, Paschal Cate R, Bennett James T, Nelson Nya D
Abstract excerpt
Vascular anomalies encompass a heterogeneous group of vascular tumors and malformations and are most often caused by singular somatic variants that arise in utero. The presence of multiple variants, including those in at least 2 different genes (multigenic variants), is rare in these mosaic disorders, and their contribution to histology and phenotype has not been well characterized. We present our molecular and...
Topics
- Humans
- Mosaicism
- Female
- Retrospective Studies
- Male
- Phenotype
- Vascular Malformations
- Adult
- Child
- Adolescent
