Burkitt lymphoma and Ewing sarcoma in a child with Williams syndrome

Nelli Vanhapiha; Sakari Knuutila; Kim Vettenranta; Olli Lohi

doi:10.1002/pbc.25055

Burkitt lymphoma and Ewing sarcoma in a child with Williams syndrome

Pediatr Blood Cancer. 2014 Oct;61(10):1877-9. doi: 10.1002/pbc.25055. Epub 2014 Apr 19.

Authors

Nelli Vanhapiha¹, Sakari Knuutila, Kim Vettenranta, Olli Lohi

Affiliation

¹ Tampere Center for Child Health Research, University of Tampere Medical School and Tampere University Hospital, Tampere, Finland.

PMID: 24753445
DOI: 10.1002/pbc.25055

Abstract

Williams syndrome (WS) is a relatively rare multisystem neurodevelopmental disorder caused by a hemizygous deletion of contiguous genes on chromosome 7q11.23. Although WS does not predispose carriers to cancers, alterations of chromosome 7 are common in several human neoplasms. We report here a patient with WS and two different cancers, Burkitt lymphoma and Ewing sarcoma. Array-CGH analysis of the patient blood revealed a constitutive 1.4 million base pair deletion at 7q11.23, compatible with WS diagnosis.

Keywords: Burkitt lymphoma; Ewing sarcoma; Williams syndrome; chromosomal translocation.

Publication types

Case Reports

MeSH terms

Adolescent
Age of Onset
Burkitt Lymphoma / genetics*
Child
Child, Preschool
Comparative Genomic Hybridization
Humans
In Situ Hybridization, Fluorescence
Sarcoma, Ewing / genetics*
Williams Syndrome / complications*
Williams Syndrome / genetics*