title: Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.
abstract: The Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by somatic overgrowth and predisposition to embryonal tumors, such as Wilm's tumor, hepatoblastoma, neuroblastoma and rhabdomyosarcoma (RMS). BWS is associated with various genetic alterations: a variety of molecular lesions are described on the chromosome 11p15, affecting gene expression for IGF2, H19, CDKN1C and KCNQ1OT1. Alveolar RMS also recognises characteristic genetic alterations: two types of translocations, t(2,13) or t(1,13), that generate the PAX3-FKHR or PAX7-FKHR fusion proteins. It has been postulated however, that in BWS this kind of tumor occurs without this characteristic chromosomal rearrangement. The authors describe case of a neonate with BWS that presented at birth with cutaneous metastasis due to alveolar RMS. Genetic analysis showed lack of the two characteristic translocations in the tumor tissue, supporting a different oncogenic pathway of alveolar RMS in children with BWS.
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
authors.forename: Fiammetta
authors.initials: F
authors.lastname: Piersigilli
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Auriti
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy. vito.mondi@mail.com.
authors.forename: Vito
authors.initials: V
authors.lastname: Mondì
authors.affiliation: Department of Pathology, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Francalanci
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
authors.forename: Guglielmo
authors.initials: G
authors.lastname: Salvatori
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.|Department of Pediatrics, University of California, Benioff Children's Hospital, San Francisco, CA, USA.
authors.forename: Olivier
authors.initials: O
authors.lastname: Danhaive
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000235:genetics*; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000378:metabolism*; D005260:Female; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D018232:Rhabdomyosarcoma, Alveolar / Q000150:complications / Q000235:genetics*
chemical_list: C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57
keywords: Beckwith-Wiedemann syndrome; Blueberry muffin syndrome; CDKN1C; Congenital alveolar rhabdomyosarcoma