Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome

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• 作者：Fiammetta Piersigilli ; Cinzia Auriti ; Vito Mondì…
• 关键词：Beckwith ; Wiedemann syndrome ; Congenital alveolar rhabdomyosarcoma ; Blueberry muffin syndrome ; CDKN1C
• 刊名：The Indian Journal of Pediatrics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：83
• 期：12-13
• 页码：1476-1478
• 全文大小：
• 刊物主题：Pediatrics; Gynecology;
• 出版者：Springer India
• ISSN：0973-7693
• 卷排序：83

文摘

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.