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Burkitt lymphoma and Ewing sarcoma in a child with Williams syndrome
Nelli Vanhapiha1, Sakari Knuutila, Kim Vettenranta
1Tampere Center for Child Health Research, University of Tampere Medical School and Tampere University Hospital, Tampere, Finland.
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.
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