1.Section for Cancer Cytogenetics, Institute for Cancer Genetics, Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Montebello, Oslo 031, Norway
Mesothelioma is an aggressive tumor derived from mesothelial cells. Losses of chromosome bands 14q32 and 22q12 have been found in more than 35% of the cases. Using RNA sequencing EWSR1-YY1 and its reciprocal YY1-EWSR1 fusion transcripts were detected in a mesothelioma carrying a t(14;22)(q32;q12) as the sole chromosomal aberration. Screening 15 additional cases of mesothelioma one more tumor was identified to carry an EWSR1-YY1 fusion gene but not the reciprocal YY1-EWSR1 transcript. In both cases exon 8 of EWSR1 (nucleotide 1139 accession number NM_013986 version 3, former exon 7 in sequence with accession number X66899) was fused to exon 2 of YY1 (nucleotide 1160 accession number NM_003403 version 3). The EWSR1-YY1 encoded protein is an abnormal transcription factor with the transactivation domain of EWSR1 and the DNA binding domain of YY1. This is the first study to detect a specific fusion gene in mesothelioma and also the direct involvement of YY1 in oncogenesis.
Ioannis Panagopoulos
Mesothelioma: t(14;22)(q32;q12) EWSR1/YY1
Atlas Genet Cytogenet Oncol Haematol. 2014-05-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/6460/mesothelioma-t(14;22)(q32;q12)-ewsr1-yy1