Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years). We herewith propose that the BCL7B gene, located in the chromosomal region commonly deleted in Williams syndrome, could potentially have a role in this particular association.

Decimi, V., Fazio, G., Dell'Acqua, F., Maitz, S., Galbiati, M., Rizzari, C., et al. (2016). Williams syndrome and mature B-Leukemia: A random association?. EUROPEAN JOURNAL OF MEDICAL GENETICS, 59(12), 634-640 [10.1016/j.ejmg.2016.10.007].

Williams syndrome and mature B-Leukemia: A random association?

DECIMI, VALENTINA;FAZIO, GRAZIA;Rizzari, C;BIONDI, ANDREA;Cazzaniga, G;
2016

Abstract

Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years). We herewith propose that the BCL7B gene, located in the chromosomal region commonly deleted in Williams syndrome, could potentially have a role in this particular association.
Articolo in rivista - Articolo scientifico
Cancer predisposition; Mature B-Leukemia; Williams syndrome;
Cancer predisposition; Mature B-Leukemia; Williams syndrome
English
19-ott-2016
2016
59
12
634
640
reserved
Decimi, V., Fazio, G., Dell'Acqua, F., Maitz, S., Galbiati, M., Rizzari, C., et al. (2016). Williams syndrome and mature B-Leukemia: A random association?. EUROPEAN JOURNAL OF MEDICAL GENETICS, 59(12), 634-640 [10.1016/j.ejmg.2016.10.007].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/135135
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