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Case Reports in Genetics
Volume 2017, Article ID 1587610, 13 pages
Case Report

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

1Pediatric Surgical Oncology Section, Oncology Service, Department of Hematology-Oncology, Hospital Nacional de Niños “Dr. Carlos Sáenz Herrera”, Paseo Colón, 1654-1000 San José, Costa Rica
2Oncology Section, Department of Pediatric Surgery, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain
3Institute of Medical and Molecular Genetics (INGEMM), Instituto de Investigación Hospital Universitario La Paz (IdiPAZ), Paseo de la Castellana 261, 28046 Madrid, Spain
4Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Calle Sinesio Delgado 4, 28029 Madrid, Spain

Correspondence should be addressed to Carlos Sánchez-Montenegro; gro.dirdam.dulas@mzehcnasc

Received 5 October 2016; Revised 20 December 2016; Accepted 28 December 2016; Published 19 January 2017

Academic Editor: Philip D. Cotter

Copyright © 2017 Carlos Sánchez-Montenegro et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. A review of the literature published in English in MEDLINE from January 1971 to June 2016 using the search terms “Costello syndrome” and “rhabdomyosarcoma” was performed, including two new cases that we describe. Twenty-six patients with Costello syndrome and rhabdomyosarcoma were recorded with mean age of diagnosis of 2 years and 8 months. The most common tumor location was the abdomen/pelvis, including four out of ten of those in the umbilical ligament. The most common histological subtype was embryonal rhabdomyosarcoma. Overall survival was 43%. A total of 17 rhabdomyosarcomas in pediatric patients arising in the umbilical ligament were recorded with mean age of diagnosis of 3 years and 4 months. Overall survival was 69%. Costello syndrome is a poorly known disorder in pediatric oncology but their predisposition to malignancies implies the need for a new perspective on early diagnosis and aggressive medical and surgical treatment.