title: Williams syndrome and mature B-Leukemia: A random association?
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.
authors: Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Valentina
authors: V
authors: Decimi
authors: Centro Ricerca Tettamanti, Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Grazia
authors: G
authors: Fazio
authors: Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Fabiola
authors: F
authors: Dell'Acqua
authors: Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Silvia
authors: S
authors: Maitz
authors: Centro Ricerca Tettamanti, Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Marta
authors: M
authors: Galbiati
authors: Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Carmelo
authors: C
authors: Rizzari
authors: Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Andrea
authors: A
authors: Biondi
authors: Centro Ricerca Tettamanti, Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy.
authors: Giovanni
authors: G
authors: Cazzaniga
authors: Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy; Department of Pediatrics, Presidio S. Fermo, ASST Lariana, Como, Italy. Electronic address: angelo.selicorni@asst-lariana.it.
authors: Angelo
authors: A
authors: Selicorni
mesh_terms: D002051:Burkitt Lymphoma / Q000150:complications / Q000235:genetics / Q000473:pathology; D002648:Child; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D015448:Leukemia, B-Cell / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D011506:Proteins / Q000235:genetics*; D018980:Williams Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: C116387:BCL7B protein, human; D011506:Proteins
keywords: Cancer predisposition; Mature B-Leukemia; Williams syndrome