t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma

✍ Scribed by Petter Brandal; Ioannis Panagopoulos; Bodil Bjerkehagen; Sverre Heim

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 208 KB
• Volume: 48
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/gcc.20706

✦ Synopsis

Abstract

Myoepithelial neoplasms of soft tissue have only recently been acknowledged as a separate diagnostic entity. To know based on histological appearance whether these tumors are benign or malignant is often difficult, and their tumorigenic mechanisms remain poorly understood. We report a myoepithelial carcinoma with an aberrant near‐diploid karyotype, 43∼47,XX,add(1)(p34)x2,add(3)(q27)x2,del(12)(q22),+add(18)(p11)x2,del(22)(q11),+r, found in cells cultured from a lung metastasis. The deletion in 22q led us to search by molecular cytogenetic means for possible EWSR1 rearrangements, and eventually a novel chimeric gene consisting of the 5′‐end of EWSR1 (22q12) and the 3′‐end of ZNF444 (19q13) was found. How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSR1 rearrangement suggests that this, possibly even the EWSR1‐ZNF444, is a defining pathogenetic feature of at least a subset of these tumors. © 2009 Wiley‐Liss, Inc.