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在非典型血管病变、原发性或放射性诱导性乳腺血管肉瘤以及其他部位原发性血管肉瘤中,MYC 扩增和抗-MYC 免疫组化的诊断效用。

Diagnostic utility of MYC amplification and anti-MYC immunohistochemistry in atypical vascular lesions, primary or radiation-induced mammary angiosarcomas, and primary angiosarcomas of other sites.

机构信息

Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10065, USA.

Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10065, USA; Institute for Precision Medicine of Weill Cornell and New York-Presbyterian Hospital, New York, NY 10065, USA.

出版信息

Hum Pathol. 2014 Apr;45(4):709-16. doi: 10.1016/j.humpath.2013.11.002. Epub 2013 Nov 12.

DOI:10.1016/j.humpath.2013.11.002
PMID:24457083
Abstract

Breast cancer patients who receive radiation therapy or develop chronic lymphedema following axillary dissection can develop secondary mammary angiosarcomas (ASs) and, additionally, atypical vascular lesions (AVLs) in the former group. Recently, MYC amplification by fluorescence in situ hybridization (FISH) has been identified in secondary mammary AS but not in AVL and most primary mammary AS as well as AS of other sites. We studied MYC amplification and MYC protein expression in 7 radiation-induced AVLs, 9 secondary mammary ASs, 17 primary mammary ASs, and 20 primary ASs of other sites by FISH analysis and immunohistochemistry. All 9 secondary mammary ASs showed gene amplification and protein expression, whereas neither was found in any of 7 AVLs. No MYC amplification or protein expression was identified in any of the 17 primary mammary ASs. Among primary ASs of other sites, 1 cardiac AS and 1 skin AS showed gene amplification and protein expression. The remaining 18 did not show amplification (90%), but some demonstrated protein expression (39%). We conclude that MYC amplification by FISH is present in secondary mammary AS but not in AVL. We also found MYC amplification in 1 primary skin AS and 1 primary cardiac AS. There was 100% concordance between MYC amplification and protein expression in all AVL, primary mammary AS, and secondary mammary AS, whereas only 65% concordance was found in AS of other sites. MYC protein expression in AS can be helpful in certain diagnostic scenarios in the breast but not in other sites.

摘要

接受腋窝清扫术后接受放射治疗或发生慢性淋巴水肿的乳腺癌患者可能会发展为继发性乳腺血管肉瘤(AS),此外,在前一组患者中还会出现非典型血管病变(AVL)。最近,通过荧光原位杂交(FISH)发现继发性乳腺 AS 中存在 MYC 扩增,但在 AVL 和大多数原发性乳腺 AS 以及其他部位的 AS 中则没有。我们通过 FISH 分析和免疫组织化学研究了 7 例放射诱导的 AVL、9 例继发性乳腺 AS、17 例原发性乳腺 AS 和 20 例其他部位原发性 AS 中的 MYC 扩增和 MYC 蛋白表达。所有 9 例继发性乳腺 AS 均显示基因扩增和蛋白表达,而 7 例 AVL 均未发现。17 例原发性乳腺 AS 中均未发现 MYC 扩增或蛋白表达。在其他部位的原发性 AS 中,1 例心脏 AS 和 1 例皮肤 AS 显示基因扩增和蛋白表达。其余 18 例未显示扩增(90%),但部分显示蛋白表达(39%)。我们得出结论,FISH 中的 MYC 扩增存在于继发性乳腺 AS 中,但不存在于 AVL 中。我们还发现 1 例原发性皮肤 AS 和 1 例原发性心脏 AS 存在 MYC 扩增。在所有 AVL、原发性乳腺 AS 和继发性乳腺 AS 中,MYC 扩增与蛋白表达之间存在 100%的一致性,而在其他部位的 AS 中则发现只有 65%的一致性。AS 中的 MYC 蛋白表达在某些乳腺诊断情况下可能会有所帮助,但在其他部位则没有。

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