t(19;22)(q13;q12) Translocation Leading to the Novel Fusion Gene EWSRI-ZNF444 in Soft Tissue Myoepithelial Carcinoma

被引:94
作者
Brandal, Petter [1 ,2 ]
Panagopoulos, Ioannis [3 ]
Bjerkehagen, Bodil [4 ]
Heim, Sverre [2 ,5 ]
机构
[1] Oslo Univ Hosp, Norwegian Radium Hosp, Dept Oncol, Div Canc Med & Radiotherapy, Oslo, Norway
[2] Oslo Univ Hosp, Norwegian Radium Hosp, Dept Med Genet, Div Lab Med, Oslo, Norway
[3] Lund Univ, Dept Clin Genet, Lund, Sweden
[4] Oslo Univ Hosp, Norwegian Radium Hosp, Div Pathol, Oslo, Norway
[5] Univ Oslo, Fac Med, N-0316 Oslo, Norway
基金
瑞典研究理事会;
关键词
MALIGNANT MYOEPITHELIOMA; TUMORS;
D O I
10.1002/gcc.20706
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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 similar to 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 EWSRI rearrangements, and eventually a novel chimeric gene consisting of the 5'-end of EWSRI (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 EWSRI rearrangement suggests that this, possibly even the EWSRI-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors. (C) 2009 Wiley-Liss, Inc.
引用
收藏
页码:1051 / 1056
页数:6
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