Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature
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 Engli...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/1587610 |
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| author | Carlos Sánchez-Montenegro Alejandra Vilanova-Sánchez Saturnino Barrena-Delfa Jair Tenorio Fernando Santos-Simarro Sixto García-Miñaur Pablo Lapunzina Leopoldo Martínez-Martínez |
| author_facet | Carlos Sánchez-Montenegro Alejandra Vilanova-Sánchez Saturnino Barrena-Delfa Jair Tenorio Fernando Santos-Simarro Sixto García-Miñaur Pablo Lapunzina Leopoldo Martínez-Martínez |
| author_sort | Carlos Sánchez-Montenegro |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-df0439c942704519a6be6279ebf7314f |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-df0439c942704519a6be6279ebf7314f2025-02-03T06:08:11ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/15876101587610Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the LiteratureCarlos Sánchez-Montenegro0Alejandra Vilanova-Sánchez1Saturnino Barrena-Delfa2Jair Tenorio3Fernando Santos-Simarro4Sixto García-Miñaur5Pablo Lapunzina6Leopoldo Martínez-Martínez7Pediatric Surgical Oncology Section, Oncology Service, Department of Hematology-Oncology, Hospital Nacional de Niños “Dr. Carlos Sáenz Herrera”, Paseo Colón, 1654-1000 San José, Costa RicaOncology Section, Department of Pediatric Surgery, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, SpainOncology Section, Department of Pediatric Surgery, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, SpainInstitute of Medical and Molecular Genetics (INGEMM), Instituto de Investigación Hospital Universitario La Paz (IdiPAZ), Paseo de la Castellana 261, 28046 Madrid, SpainInstitute of Medical and Molecular Genetics (INGEMM), Instituto de Investigación Hospital Universitario La Paz (IdiPAZ), Paseo de la Castellana 261, 28046 Madrid, SpainInstitute of Medical and Molecular Genetics (INGEMM), Instituto de Investigación Hospital Universitario La Paz (IdiPAZ), Paseo de la Castellana 261, 28046 Madrid, SpainInstitute of Medical and Molecular Genetics (INGEMM), Instituto de Investigación Hospital Universitario La Paz (IdiPAZ), Paseo de la Castellana 261, 28046 Madrid, SpainOncology Section, Department of Pediatric Surgery, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, SpainCostello 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.http://dx.doi.org/10.1155/2017/1587610 |
| spellingShingle | Carlos Sánchez-Montenegro Alejandra Vilanova-Sánchez Saturnino Barrena-Delfa Jair Tenorio Fernando Santos-Simarro Sixto García-Miñaur Pablo Lapunzina Leopoldo Martínez-Martínez Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature Case Reports in Genetics |
| title | Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature |
| title_full | Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature |
| title_fullStr | Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature |
| title_full_unstemmed | Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature |
| title_short | Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature |
| title_sort | costello syndrome and umbilical ligament rhabdomyosarcoma in two pediatric patients case reports and review of the literature |
| url | http://dx.doi.org/10.1155/2017/1587610 |
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