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Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1‐PBX1 fusion gene in a myoepithelioma
Author(s) -
Brandal Petter,
Panagopoulos Ioannis,
Bjerkehagen Bodil,
Gorunova Ludmila,
Skjeldal Sigmund,
Micci Francesca,
Heim Sverre
Publication year - 2008
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20559
Subject(s) - myoepithelioma , fusion gene , myoepithelial cell , chromosomal translocation , biology , exon , cancer research , gene , karyotype , breakpoint , chromosome , genetics , microbiology and biotechnology , immunology , immunohistochemistry
Chromosome banding as well as molecular cytogenetic methods are of great help in the diagnosis of mesenchymal tumors. Myoepithelial neoplasms of soft tissue including myoepitheliomas, mixed tumors, and parachordomas are diagnoses that have been increasingly recognized the last few years. It is still debated which neoplasms should be included in these morphologically heterogeneous entities, and the boundaries between them are not clear‐cut. The pathogenetic mechanisms behind myoepithelial tumors are unknown. Only five parachordomas and one mixed tumor have previously been karyotyped, and nothing is known about their molecular genetic characteristics. We present a mesenchymal tumor classified as a myoepithelioma that had a balanced translocation t(1;22)(q23;q12) as the sole karyotypic change. A novel EWSR1‐PBX1 fusion gene consisting of exons 1–8 of the 5′‐end of EWSR1 and exons 5–9 of the 3′‐end of PBX1 was shown to result from the translocation. Both genes are known to be targeted also by other neoplasia‐specific translocations, PBX1 in acute lymphoblastic leukemia and EWSR1 in several solid tumors, most of which are malignant. Based on the structure of the novel fusion gene detected, its transforming mechanism is thought to be the same as for other fusion genes involving EWSR1 or PBX1 . © 2008 Wiley‐Liss, Inc.