ABSTRACT
Rhabdomyosarcoma is the most common soft tissue tumor seen in children and young adults, and it can be classified into 2 major histological subtypes, alveolar and embryonal. In the alveolar subtype, 2 recurrent chromosomal translocations, t(2;13)(q35;q14) and its variant t(1;13)(p36;q14), have been identified as the specific cytogenetic abnormalities. These translocations produce the PAX3-FOXO1 and PAX7-FOXO1 fusion genes, respectively. In the embryonal subtype, however, no recurrent chromosomal abnormalities have been identified. In this study, we analyzed the complex chromosomal translocation in one case with embryonal rhabdomyosarcoma by means of spectral karyotyping (SKY) and identified a novel translocation involving chromosome band 2q35, which is the locus of PAX3 gene. Furthermore, we identified the novel PAX3 rearrangement using fluorescence in situ hybridization (FISH) analysis. Additional identification of the partner gene may help disclose the molecular mechanism of the development of this embryonal subtype.
Subject(s)
Mutation , Paired Box Transcription Factors/genetics , Rhabdomyosarcoma, Embryonal/genetics , Urogenital Neoplasms/genetics , Cytogenetic Analysis , DNA Mutational Analysis , Humans , Infant , Male , Oncogene Proteins, Fusion/genetics , PAX3 Transcription Factor , Recombinant Fusion Proteins/analysis , Recombinant Fusion Proteins/genetics , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
BACKGROUND: Respiratory syncytial virus (RSV) and other pathogenic agents cause lower respiratory infection with wheezing in infants (wheezing illness in infancy). Wheezing illness in infancy due to RSV can be life-threatening and can induce recurrent wheezing; but these events can also be produced by infection by other pathogenic agents. Thus, whether RSV induces more severe wheezing illness in infancy remains poorly understood. METHODS: Infants with an initial wheezing illness were divided into an RSV-positive group and an RSV-negative group and the differences in disease severity, intensity of acute symptoms, and susceptibility to recurrent wheezing, between these two groups, were investigated. RESULTS: The RSV-positive group accounted for 57.4% of the infants. The infants in the RSV-positive group were significantly younger than those in the RSV-negative group. Other background parameters, gender and family history, were not significantly different. There were no significant differences in indicators of severity (hospitalization periods, periods of persistent wheezing and requirement of oxygen supplementation) between the two groups. CONCLUSION: Wheezing illness in infancy caused by RSV is more common in younger infants, but it is not more severe than that caused by other pathogenic agents.
