Novel Breakpoints of the EWS Gene and the WT1 Gene in a Desmoplastic Small Round Cell Tumor

• Published in: Cancer genetics and cytogenetics 1998-10, Vol.106 (2), p.156-158
• Main Authors: Shimizu, Yukitoshi, Mitsui, Tetsuo, Kawakami, Takako, Ikegami, Tohru, Kanazawa, Chikako, Katsuura, Michihiko, Obata, Kazuya, Yamagiwa, Iwao, Hayasaka, Kiyoshi
• Format: Article
• Language: English
• Subjects: Abdomen; Abdominal Neoplasms - genetics; Adolescent; Biological and medical sciences; Carcinoma, Small Cell - genetics; Chromosome Breakage; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 22; DNA-Binding Proteins - genetics; Gastroenterology. Liver. Pancreas. Abdomen; Heterogeneous-Nuclear Ribonucleoproteins; Humans; Male; Medical sciences; Oncogene Proteins, Fusion - analysis; Ribonucleoproteins - genetics; RNA-Binding Protein EWS; Transcription Factors - genetics; Translocation, Genetic; Tumors; WT1 Proteins
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(98)00062-4

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.