Burkitt lymphoma and Ewing sarcoma in a child with Williams syndrome.

Category Primary study
JournalPediatric blood & cancer
Year 2014
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.
Epistemonikos ID: b276f864c5f8abdd70937917a10df2d2c7a57dcc
First added on: Apr 18, 2022