Thoracic Myoepithelial Tumors: A Pathologic and Molecular Study of 8 Cases With Review of the Literature.
Thoracic Myoepithelial Tumors: A Pathologic and Molecular Study of 8 Cases With Review of the Literature.
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胸廓肌上皮肿瘤：8例病理和分子研究并文献复习。
DOI：
10.1097/pas.0000000000000560
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发表时间：
2016-02
期刊：
影响因子：
--
通讯作者：
Travis WD
中科院分区：
文献类型：
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作者：
Leduc C;Zhang L;Öz B;Luo J;Fukuoka J;Antonescu CR;Travis WD
摘要胸部肌上皮肿瘤是一种罕见的肌上皮分化型肿瘤。从形态学和遗传学的角度来看，它们的特征都很差，特别是区分良性和恶性行为的特征。我们检查了8个原发性胸部MT的组织学和免疫组化特征，并对EWSR 1、FUS、PLAG 1和HMGA 2以及几个伙伴基因进行了荧光原位杂交。半数（4/8）的MT发生在大气道，3例有浸润性边界。所有病例均显示上皮标志物的免疫反应性，与S-100蛋白或肌源性标志物。MT在其他部位表现出与MT相似的形态学特征，没有肿瘤具有导管分化。5例出现坏死和/或淋巴管浸润，核分裂活动范围为0-6个核分裂数/2 mm 2（平均1个）。2例发生转移，无死亡病例。在一半的病例中鉴定出基因重排，其中EWSR 1-PBX 1、EWSR 1-ZNF 444和FUS-KLF 17融合各鉴定出1例，1例具有EWSR 1重排但未鉴定出伴侣。未发现HMGA 2或PLAG 1异常。与融合阴性肿瘤相比，融合阳性肿瘤倾向于发生在更年轻（50 vs 58岁）、女性（男女比例1：3 vs 3：1）的患者中，并主要表现为梭形和透明细胞形态。使用我们的病例系列的联合数据集（16例来自文献），预后不良与转移（p=0.003）、坏死（p=0.027）和≥ 5个核分裂/2 mm 2/10 HPF（p=0.005）显著相关。总之，我们确定了一个亚组的胸部MT窝藏重排EWSR 1或FUS，我们的数据表明，坏死和有丝分裂活动增加与积极的临床行为。
Thoracic myoepithelial tumors (MTs) are a rare group of tumors showing predominant or exclusive myoepithelial differentiation. They are poorly characterized from both a morphologic and genetic standpoint, in particular features that separate benign from malignant behavior. We examined the histologic and immunohistochemical features of 8 primary thoracic MTs and performed fluorescence in situ hybridization for EWSR1, FUS, PLAG1, and HMGA2, as well as several partner genes. Half (4/8) of the MTs occurred in large airways and 3 had infiltrative borders. All cases showed immunoreactivity for epithelial markers, in conjunction with S-100 protein or myogenic markers. MTs showed morphologic characteristics analogous to MTs at other sites, with no tumors having ductal differentiation. Necrosis and/or lymphovascular invasion was present in 5 cases, with mitotic activity ranging from 0–6 mitoses/2 mm2 (mean 1). Metastases occurred in 2 cases, and no patients died of disease. Gene rearrangements were identified in half of the cases, with EWSR1-PBX1, EWSR1-ZNF444, and FUS-KLF17 fusions identified in one case each, and one case having EWSR1 rearrangement with no partner identified. No cases were found to have HMGA2 or PLAG1 abnormalities. Compared to fusion negative tumors, fusion positive tumors tended to occur in patients who were younger (50 vs 58 yrs), female (1:3 vs 3:1 male:female ratio), and demonstrated predominantly spindle and clear cell morphology. Using a combined dataset of our case series with 16 cases from the literature, poor prognosis was significantly correlated with metastases (p=0.003), necrosis (p=0.027), and ≥ 5 mitoses per 2mm2/10 HPF (p=0.005). In summary, we identify a subset of thoracic MTs harboring rearrangements in EWSR1 or FUS, and our data suggests that necrosis and increased mitotic activity correlate with aggressive clinical behavior.