Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant
Complex lymphatic anomalies are an important new phenotype associated with the pathogenic BRAF p.V600E variant. Even in initially asymptomatic individuals within this patient population, longitudinal follow-up is necessary, and surgical intervention should be pursued with caution. Further investigation is needed to better understand the etiology of the conduction problems associated with this pathogenic variant to inform the multidisciplinary approach to treatment.
Authors
- Denise M. Adams (ORCID: https://orcid.org/0000-0002-2892-5369)
- Kristen Snyder (ORCID: https://orcid.org/0000-0003-3209-0162)
- Alexandra J. Borst (ORCID: https://orcid.org/0000-0002-7316-8643)
- Allison Britt (ORCID: https://orcid.org/0000-0001-6601-0453)
- Lea F. Surrey (ORCID: https://orcid.org/0000-0002-6944-2232)
- Sarah E. Sheppard (ORCID: https://orcid.org/0000-0003-3480-8123)
- Michael D. Fox (ORCID: https://orcid.org/0000-0003-1297-6935)
- Sumukh Kumar
- Seth Vatsky (ORCID: https://orcid.org/0000-0002-2088-9738)
- Håkon Håkonarson (ORCID: https://orcid.org/0000-0003-2814-7461)
- Abhay Srinivasan (ORCID: https://orcid.org/0000-0002-0180-4719)
- Dong Li (ORCID: https://orcid.org/0000-0002-2265-6727)
Institutions
- University of North Carolina at Chapel Hill (US)
- Children's Hospital of Philadelphia (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Pediatric Blood & Cancer
- Published
- 2025-08-30
- DOI
- https://doi.org/10.1002/pbc.32015
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- U.S. Department of Health and Human Services
- National Institutes of Health