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Loss of H3K27me3 Expression Is a Highly Sensitive Marker for Sporadic and Radiation-induced MPNST.

H3K27me3表达缺失是散发及射线诱发的恶性周围神经鞘膜瘤一种高度敏感指标

Prieto-Granada CN,Wiesner T,Messina JL,Jungbluth AA,Chi P,Antonescu CR

Abstract

Most malignant peripheral nerve sheath tumors (MPNSTs) exhibit combined inactivation of NF1, CDKN2A, and polycomb repressive complex 2 component genes (Embryonic Ectoderm Development [EED] and Suppressor of Zeste 12 [SUZ12]). Mutations in EED and SUZ12 induce loss of trimethylation at lysine 27 of histone 3 (H3K27me3), with subsequent aberrant transcriptional activation of polycomb repressive complex 2-repressed homeobox master regulators. These findings prompted us to investigate the performance of an anti-H3K27me3 monoclonal antibody clone C36B11 as an immunohistochemical marker for MPNSTs. We assessed the C36B11 reactivity pattern in a pathologically and genetically well-characterized cohort of 68 MPNSTs, spanning various clinical presentations, such as type 1 neurofibromatosis (NF1), radiotherapy, and sporadic MPNSTs. We found that 69% (n=47) of all MPNSTs demonstrated loss of H3K27me3 expression, with 42 (61%) showing complete loss and 5 (7%) showing partial loss, whereas 31% (n=21) retained H3K27me3 expression. Among the NF1-related high-grade MPNSTs, 60% demonstrated loss of expression. In contrast, the majority of both sporadic (95%) and radiotherapy-related (91%) MPNSTs showed loss of H3K27me3 expression. Two of the 3 low-grade MPNSTs and all neurofibromas showed retained expression. Furthermore, all 5 epithelioid MPNSTs retained H3K27me3 labeling. The specificity of H3K27me3 loss as a marker for MPNSTs was studied by testing a large spectrum of lesions included in MPNST differential diagnosis, such as spindle/desmoplastic melanomas, synovial sarcomas, myoepithelial tumors, and other mesenchymal neoplasms, all of which retained expression of H3K27me3. We conclude that immunohistochemical analysis of H3K27me3 has good sensitivity and robust specificity for the diagnosis of MPNST, particularly outside of NF1 clinical history, which represents the most challenging diagnostic setting.

摘要

大部分恶性周围神经鞘膜瘤表现为NF1、CDKN2A多梳抑制复合体2组成基因(胚胎外胚层发育和SUZ12的抑制剂)的共同失活。EED和SUZ12的突变诱导组蛋白3的27位氨基酸三甲基化的缺失,后续多梳抑制复合体2抑制的同源异型盒主调控因子转录异常激活。

这些发现促使我们去研究抗H3K27me3单克隆抗体(克隆号C36B11)是否可以作为MPNST的免疫组化标记。

我们以病理上和遗传学上特征分明的68例MPNST为例研究C36B11的表达模式,并扩展至各种临床表现,比如1型多发性神经纤维瘤、射线诱发和散发MPNST。

发现有47例MPNST患者具有H3K27me3表达的缺失,其中42例完全缺失,5例部分缺失。然而21例仍有H3K27me3表达。在1型多发性神经纤维瘤相关的高级别MPNST中,60%有H3K27me3表达缺失。相比之下,95%散发和91%与射线有关的大部分MPNST显示H3K27me3表达缺失。2/3的低级别MPNST和全部多发性神经纤维瘤仍有H3K27me3表达。而且,5例上皮性MPNST都有H3K27me3的标记。H3K27me3的特异性缺失作为MPNST的标记在大部分MPNST中有鉴别诊断作用,比如梭形细胞性/促纤维结缔组织增生性黑色素瘤、滑膜肉瘤、肌上皮瘤和其它间质肿瘤,所有这些仍有H3K27me3表达。

我们得出的结论是免疫组化标记H3K27me3对诊断MPNST有高敏感性和较强特异性,尤其是最具挑战性的、即没有1型多发性神经纤维瘤临床病史的MPNST。

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