t(19;22)(q13;q12) Translocation Leading to the Novel Fusion Gene EWSRI-ZNF444 in Soft Tissue Myoepithelial Carcinoma
t(19;22)(q13;q12) Translocation Leading to the Novel Fusion Gene EWSRI-ZNF444 in Soft Tissue Myoepithelial Carcinoma
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DOI：
10.1002/gcc.20706
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发表时间：
2009-12-01
影响因子：
3.7
通讯作者：
Heim, Sverre
中科院分区：
文献类型：
--
作者：
Brandal, Petter;Panagopoulos, Ioannis;Heim, Sverre
软组织肌上皮肿瘤直到最近才被认为是一个单独的诊断实体。根据组织学外观判断这些肿瘤是良性还是恶性通常很困难，并且它们的致瘤机制仍然知之甚少。我们报告了一种异常近二倍体核型的肌上皮癌，43 类似于 47,XX,add(1)(p34)x2,add(3)(q27)x2,del(12)(q22),+add(18)(p11)x2,del(22)(q11),+r，在肺转移培养的细胞中发现。 22q的缺失使我们通过分子细胞遗传学手段寻找可能的EWSRI重排，最终发现了一个由EWSRI（22q12）5'端和ZNF444（19q13）3'端组成的新型嵌合基因。新的融合基因如何促进肿瘤发生尚不清楚，但 EWSRI 重排的发现表明，这一基因，甚至可能是 EWSRI-ZNF444，是这些肿瘤中至少一部分的明确发病特征。 (C) 2009 Wiley-Liss, Inc.
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.