Genetics of hemangiomas, vascular malformations, and primary lymphedema

Julie Blatt, Cynthia M. Powell, Craig N. Burkhart, Joseph Stavas, Arthur S. Aylsworth

Research output: Contribution to journalReview articlepeer-review

15 Scopus citations


With improved genetic testing and genomic sequencing, abnormalities are increasingly being identified in affected or germline tissues in DNA of patients with vascular tumors, vascular malformations, and lymphedema. Recognition of the genetics of vascular anomalies should help clinicians make more specific diagnoses, anticipate diagnosis-specific morbidities, provide better genetic counseling, and have a better understanding of the pathogenesis of these anomalies. Growing pharmacologic options, including therapies targeted to specific mutations, with obvious parallels to cancer treatment now allow the pediatric hematologistoncologist to assume a more prominent role in clinical care and research for patients with these diagnoses. We summarize genes and genetic loci that have been associated with vascular anomalies and offer guidelines for patient evaluations.

Original languageEnglish
Pages (from-to)587-593
Number of pages7
JournalJournal of Pediatric Hematology/Oncology
Issue number8
StatePublished - Nov 8 2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology
  • Medicine(all)


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