Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.
(2016) Indian Journal of Pediatrics — Vol. 83, n° 12-13, p. 1476-1478 (2016)
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- Authors
- 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.
- Affiliations
University of California, San Francisco Department of Pediatrics Bambino Gesù Children’s Hospital – (Italy) Roma Department of Medical and Surgical Neonatology
Citations
Piersigilli, F., Auriti, C., Mondì, V., Francalanci, P., Salvatori, G., & Danhaive, O. (2016). Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. Indian Journal of Pediatrics, 83(12-13), 1476-1478. https://doi.org/10.1007/s12098-016-2187-y (Original work published 2016)