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Myoepithelioma-like Tumors of the Vulvar Region: A Distinctive Group of SMARCB1-deficient Neoplasms.

外阴区肌上皮瘤样肿瘤:一组具有SMARCB1缺失的特殊肿瘤。

Yoshida A,Yoshida H,Yoshida M,Mori T,Kobayashi E,Tanzawa Y,Yasugi T,Kawana K,Ishikawa M,Sugiura H,Maeda D,Fukayama M,Kawai A,Hiraoka N,Motoi T

Abstract

We describe 9 tumors that resemble soft tissue myoepitheliomas but possess certain traits that do not fit perfectly into this category. These tumors, herein referred to as "myoepithelioma-like tumors of the vulvar region," occurred in the subcutis of the vulva and surrounding regions of adult women aged 24 to 65 years. Histologically, the tumors measured 2 to 7.7 cm and were well circumscribed, focally encapsulated, and lobulated. Tumor cells had an epithelioid to spindled shape, with fine amphophilic cytoplasm, and uniform nuclei with vesicular chromatin and nucleoli. The tumor stroma was relatively hypervascular, and comprised a mixture of myxoid and nonmyxoid components. Myxoid areas accounted for <5% to 95% of the tumor volume, wherein cells proliferated singly or in a loosely cohesive manner. In nonmyxoid areas, tumors cells grew in diffuse sheets or storiform arrangements. Immunohistochemically, all tested tumors were positive for vimentin, epithelial membrane antigen, and estrogen receptor; most tumors expressed actin. All tumors were negative for S100 protein, glial fibrillary acidic protein, and CD34. Cytokeratin expression was absent in all but 2 tumors, which showed rare positivity. SMARCB1 expression was deficient in all cases. EWSR1, FUS, and NR4A3 rearrangements were absent. All tumors were treated through surgery. Although 3 tumors regrew or recurred after intralesional excision, all 9 patients were alive without metastases at a mean follow-up of 66 months. Myoepithelioma-like tumors of the vulvar region constitute a distinct group of tumors, although future research is required to determine whether they are an unusual subtype of soft tissue myoepitheliomas or a separate disease.

摘要

我们总结了9例发生于外阴区域类似于软组织肌上皮瘤的病例,这些病例同时又具有一些肌上皮瘤不具有的某些特点,我们称之为“肌上皮瘤样肿瘤”。这些肿瘤发生在外阴的皮下组织,发病年龄24到65岁不等。组织学上,肿瘤直径2至7.7厘米,边界清楚,局部有包膜,呈分叶状。肿瘤细胞上皮样或梭形,胞浆嗜双色性,细胞核大小一致,染色质空泡状,有核仁。肿瘤间质富于血管,由粘液样区域和无粘液样区域混合组成。粘液样区占整个肿瘤体积的5%至95%,细胞单个,松散排列。在无粘液样区域,肿瘤细胞为弥漫片状或席纹状排列。免疫组化显示所有的肿瘤细胞vimentin、 EMA和ER阳性,大多数肿瘤细胞表达actin。肿瘤细胞S100、GFAP和CD34阴性。角蛋白除了在2例病例中表达外,其他病例均为阴性,表明这类肿瘤角蛋白一般不表达。 在所有的病例中,均发现SMARCB1表达缺失。基因重排分析表明EWSR1、FUS和NR4A3无重排。所有肿瘤均通过手术切除,在随访约66个月的期间,虽然有3例肿瘤在病灶切除后有肿瘤复发,但所有9例患者均健在,并且无转移。这些数据表明,发生在外阴区域的肌上皮瘤样肿瘤是一个有明确特点的一组肿瘤,未来需要更进一步的研究来确定它们是否为软组织肌上皮瘤的一个特殊亚型或单独的肿瘤类型。

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