Williams-Beuren Syndrome and Burkitt Leukemia

J Pediatr Hematol Oncol. 2013 Jan;35(1):e30-2. doi: 10.1097/MPH.0b013e318270672f.

Abstract

Williams-Beuren Syndrome (WBS) is associated with constitutional deletion of 7q11.23, which includes the elastin gene. Cytogenetic abnormalities of chromosome 7 are frequently described in several human malignancies. Here, we report Burkitt Leukemia in an 8-year-old boy with WBS. In this patient, constitutional deletion of chromosome 7q11.23 including BCL7B was confirmed. WBS may predispose patients to Burkitt Leukemia.

Publication types

  • Case Reports

MeSH terms

  • Burkitt Lymphoma / drug therapy
  • Burkitt Lymphoma / etiology*
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Phenotype
  • Prognosis
  • Proteins / genetics*
  • Williams Syndrome / complications
  • Williams Syndrome / drug therapy
  • Williams Syndrome / genetics*

Substances

  • BCL7B protein, human
  • Proteins