Document Detail

Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome.
MedLine Citation:
PMID:  10524458     Owner:  NLM     Status:  MEDLINE    
A boy with characteristic facial features, pulmonary valvular stenosis, ectodermal abnormalities, growth failure, and mental retardation was admitted for intestinal occlusion at 20 months of age. Clinical findings were consistent with a diagnosis of cardio-facio-cutaneous syndrome (CFC-s), and a huge abdominal mass was evident on computed tomography scan. A biopsy was performed, and embryonal rhabdomyosarcoma was diagnosed. Molecular analysis was performed by reverse transcription (RT) polymerase chain reaction (PCR) on tumor RNA to seek the chimerical transcript of the most common soft tissue sarcoma translocations and analyze neurofibromatosis 1 (NF1) gene expression. Translocations involving 1;13, 2;13, and 11;22 were not found, and the specific transcripts of the NF1 gene were present. Chemotherapy was implemented, but the child died 7 months later of tumor progression. Few patients with CFC-s have been described, and their follow-up is not well known. The association of CFC-s with rhabdomyosarcoma has not been reported previously, but other neoplasms have been reported in patients with Noonan syndrome, a condition similar to CFC-s. More observations are needed, but this and other reports suggest there could be a higher risk of malignancy in patients with syndromes in the Noonan phenotype category.
G Bisogno; A Murgia; I Mammi; M S Strafella; M Carli
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  21     ISSN:  1077-4114     ISO Abbreviation:  J. Pediatr. Hematol. Oncol.     Publication Date:    1999 Sep-Oct
Date Detail:
Created Date:  1999-11-01     Completed Date:  1999-11-01     Revised Date:  2011-10-06    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  424-7     Citation Subset:  IM    
Department of Pediatrics, University of Padova, Italy.
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MeSH Terms
Craniofacial Abnormalities / complications*,  genetics
Face / abnormalities
Genes, Neurofibromatosis 1*
Heart Defects, Congenital / complications*,  genetics
Reverse Transcriptase Polymerase Chain Reaction
Rhabdomyosarcoma / complications*,  drug therapy,  genetics
Skin Abnormalities / complications*,  genetics
Comment In:
J Pediatr Hematol Oncol. 2000 Nov-Dec;22(6):546-7   [PMID:  11132227 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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