Novel breakpoints of the EWS gene and the WT1 gene in a desmoplastic small round cell tumor.
We report here a 15-year-old boy with an intraabdominal desmoplastic small round cell tumor (DSRCT). Cytogenetic analysis of the tumor cells showed the chromosomal translocation (11;22). Reverse-transcriptase polymerase chain reaction and sequencing analysis revealed a chimeric transcriptional message of the EWS gene exon 10 fused to the WT1 gene exon 8. The typical chimeric transcript seen in DSRCT is an in-frame fusion of EWS exon 7 to WT1 exon 8. The tumor in this case had a novel and longer chimeric transcript, which should be a potent transcription factor. Genetic analysis is a very powerful and specific aid in the differential diagnosis of small round cell tumors.
Shimizu
Y
Y
Department of Pediatrics, Yamagata University School of Medicine, Japan.
Mitsui
T
T
Kawakami
T
T
Ikegami
T
T
Kanazawa
C
C
Katsuura
M
M
Obata
K
K
Yamagiwa
I
I
Hayasaka
K
K
D000008:Abdominal Neoplasms / Q000235:genetics*; D000293:Adolescent; D018288:Carcinoma, Small Cell / Q000235:genetics*; D019457:Chromosome Breakage; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D004268:DNA-Binding Proteins / Q000235:genetics*; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D006801:Humans; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000032:analysis; D034802:RNA-Binding Protein EWS; D012261:Ribonucleoproteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D025721:WT1 Proteins
D004268:DNA-Binding Proteins; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D012261:Ribonucleoproteins; D014157:Transcription Factors; D025721:WT1 Proteins