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STAT6 is amplified in a subset of dedifferentiated liposarcoma.

一组去分化脂肪肉瘤中可见STAT6扩增

Doyle LA,Tao D,Mariño-Enríquez A

Abstract

A recurrent intrachromosomal rearrangement on chromosome 12q in solitary fibrous tumor leads to the formation of a NAB2-STAT6 fusion oncogene. As a result, nuclear expression of the cytoplasmic transcription factor STAT6 is found in solitary fibrous tumor and serves as a useful diagnostic marker. STAT6 is located in 12q13, a region containing well-characterized oncogenes that are commonly amplified in dedifferentiated liposarcoma; we have previously reported that STAT6 is expressed in a subset of dedifferentiated liposarcoma. The aim of this study was to determine the frequency of STAT6 expression in dedifferentiated liposarcoma and the underlying genetic mechanism. STAT6 protein expression was analyzed by immunohistochemistry in a well-characterized series of 35 previously unpublished cases of dedifferentiated liposarcoma, all with nuclear MDM2 and/or CDK4 expression by immunohistochemistry and/or cytogenetic features of dedifferentiated liposarcoma. FISH for STAT6 was performed in all cases with STAT6 expression, and a subset of control cases without STAT6 expression. In total 4/35 cases (11%) showed STAT6 expression (three with multifocal staining of moderate to strong intensity and one with weak focal staining). FISH demonstrated amplification of STAT6 in all cases positive for STAT6 by immunohistochemistry; in contrast, FISH performed on four STAT6-negative dedifferentiated liposarcomas demonstrated no STAT6 amplification (P=0.0286). Of the four STAT6 amplified cases, three patients were male and one was female, ranging in age from 51 to 76 years. Tumors were located in the mediastinum (n=2), paratesticular soft tissue (n=1), and perirenal soft tissue (n=1). Three patients received pre-operative chemotherapy +/- radiation therapy. In conclusion, STAT6 is amplified in a subset of dedifferentiated liposarcoma, resulting in STAT6 protein expression that can be detected by immunohistochemistry and may be a potential pitfall in the differential diagnosis of dedifferentiated liposarcoma and solitary fibrous tumor. These findings suggest a role for STAT6-mediated transcriptional activity in some cases of dedifferentiated liposarcoma and highlight the genomic complexity and heterogeneity of dedifferentiated liposarcoma.

摘要

孤立性纤维性肿瘤中频发性染色体12q重排形成NAB2-STAT6融合基因。因此,孤立性纤维性肿瘤中可见细胞核表达胞浆转录因子STAT6,并且是该疾病的一个有用诊断指标。STAT6位于12q13,该区域包含去分化脂肪肉瘤中一些常见的特征性基因扩增。我们曾报道了STAT6表达于一组去分化脂肪肉瘤。本研究的目的在于确定STAT6在去分化脂肪肉瘤中表达的频率及其分子机制。在35例以前未发表的去分化脂肪肉瘤中应用免疫组化方法检测STAT6蛋白表达,全部病例免疫组化中均表达细胞核MDM2和/或CDK4表达、和/或具有去分化脂肪肉瘤的遗传学特点。表达STAT6的病例、以及作为对照的一组不表达STAT6的病例均应用FISH检测STAT6。4/35(11%)表达STAT6(3例多灶中-强阳性,1例局灶弱阳性)。免疫组化表达STAT6的病例FISH均检测到STAT6扩增;而4例STAT6-阴性去分化脂肪肉瘤FISH未检测到其扩增(p=0.0286)。4例STAT6扩增病例中,3例男性,1例女性,年龄51-76岁。肿瘤位于纵隔(n=2),睾丸旁软组织(n=1),肾周软组织(n=1)。3例患者接受过术前化疗+/-放疗。结论:STAT6在一组去分化脂肪肉瘤中扩增,因此可以用免疫组织化学方法来检测STAT6蛋白的表达,并且可能是一个去分化脂肪肉瘤和孤立性纤维性肿瘤鉴别诊断的陷阱。这些表明,STAT6介导的转录活性在一些去分化脂肪肉瘤中发挥作用,并凸显了去分化脂肪肉瘤基因的复杂性和异质性。

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