Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma

Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt lymphoma.

[1]  P. Rohrlich,et al.  DNA damage response defect in Williams-Beuren syndrome. , 2017, International Journal of Molecular Medicine.

[2]  A. Selicorni,et al.  Williams syndrome and mature B-Leukemia: A random association? , 2016, European journal of medical genetics.

[3]  M. Vikkula,et al.  Genetic differences between paediatric and adult Burkitt lymphomas , 2016, British journal of haematology.

[4]  G. Crabtree,et al.  Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics , 2015, Science Advances.

[5]  M. Mraz,et al.  B‐cell receptor signalling and its crosstalk with other pathways in normal and malignant cells , 2015, European journal of haematology.

[6]  O. Delattre,et al.  SWI/SNF chromatin remodeling and human malignancies. , 2015, Annual review of pathology.

[7]  S. Mitani,et al.  The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway , 2015, PLoS genetics.

[8]  J. Soulier,et al.  Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma , 2014, Journal of Hematology & Oncology.

[9]  S. Knuutila,et al.  Burkitt lymphoma and Ewing sarcoma in a child with Williams syndrome , 2014, Pediatric blood & cancer.

[10]  Jaime Rodriguez-Canales,et al.  A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors , 2014, Nature Genetics.

[11]  R. Rickert.  New insights into pre-BCR and BCR signalling with relevance to B cell malignancies , 2013, Nature Reviews Immunology.

[12]  G. Crabtree,et al.  Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy , 2013, Nature Genetics.

[13]  A. Naqvi,et al.  Williams-Beuren Syndrome and Burkitt Leukemia , 2013, Journal of pediatric hematology/oncology.

[14]  J. Armitage,et al.  Non-Hodgkin lymphoma , 2012, The Lancet.

[15]  C. Harrison,et al.  Burkitt's lymphoma , 2012, The Lancet.

[16]  E. Varga,et al.  Bilateral Burkitt Lymphoma of the Ovaries: A Report of a Case in a Child with Williams Syndrome , 2011, Case reports in medicine.

[17]  B. Pober.  Williams-Beuren syndrome. , 2010, The New England journal of medicine.

[18]  K. Kelly,et al.  Adolescent non‐Hodgkin lymphoma and Hodgkin lymphoma: state of the science , 2009, British journal of haematology.

[19]  C. Thornburg,et al.  Burkitt lymphoma and Williams syndrome: a model for children with a multisystem disorder and malignancy. , 2005, Journal of pediatric hematology/oncology.

[20]  M. Moschovi,et al.  Non-Hodgkin lymphoma in a child with Williams syndrome. , 2004, Cancer genetics and cytogenetics.

[21]  R. Roeder,et al.  Direct role for Myc in transcription initiation mediated by interactions with TFII-I , 1993, Nature.