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具有EWSR1基因重排的间叶性肿瘤(二)

2019-07-08 21:52  阅读(111)  评论(0)  分类:软组织

具有EWSR1基因重排的间叶性肿瘤(一)

(三)硬化性上皮样纤维肉瘤

临床特点:患者平均年龄45岁(10-87岁),男性略多见;肿瘤多发生于下肢深部软组织和躯干,偶可发生于盆腔和肾脏等

部位;常表现为缓慢增大肿块,可有近期明显增大伴疼痛;


组织形态学:镜下以大量玻璃样变的胶原性间质和其间夹杂呈条索状、巢状或片状排列的小至中等大的圆形、卵圆形或多边

形上皮样瘤细胞为特征;瘤细胞胞质空而透亮或略嗜伊红色,核不规则或成角状,核染色质均匀,可见小核仁,核异型性不

明显,核分裂象少见;部分肿瘤可见类似经典纤维肉瘤成分,表现为细胞密度增生,核异型性显著,并可见较多核分裂象。

少数病例肿瘤部分区域还可与其他类型的硬化性纤维肉瘤如低度恶性纤维黏液样肉瘤相重叠,称为杂合性肿瘤;甚至还可有

非纤维化亚型出现;

具有EWSR1基因重排的间叶性肿瘤(二)

Figure 6.70 Sclerosing Epithelioid Fibrosarcoma. Cords and trabeculae of epithelioid cells in a 

densely hyalinized stroma.

具有EWSR1基因重排的间叶性肿瘤(二)

Figure 6.71 Sclerosing Epithelioid Fibrosarcoma. Bland uniform epithelioid cells

have clear cytoplasm. The sclerotic stroma may mimic osteoid.

具有EWSR1基因重排的间叶性肿瘤(二)

Figure 6.72 Sclerosing Epithelioid Fibrosarcoma. A fascicular, fibroblastic spindle cell component is 

sometimes also present.


免疫表型:特征性表达MUC4,可表达HMGA2TLE1,可局灶或弱阳性表达EMA、S100、inhibinIFITM1;可有MDM2过表达;不

表达SOX10GFAPkeratinsynSALL4cyclin D1Claudin-4calretininOCT3/4CD138CD10CD34、SMA

desminSTAT6P53、CD68、HMB45和CD30;


分子遗传学:硬化性上皮样纤维肉瘤与低度恶性纤维黏液样肉瘤有一定的关系,不仅两者均表达MUC4,而且均存在FUS基因

易位。在纯的硬化性上皮样纤维肉瘤中90%病例显示EWSR1(伙伴基因有:CREB3L1、CREB3L2和CREB3L3)基因易位,少数为

FUS基因易位;杂合性硬化性上皮样纤维肉瘤/低度恶性纤维黏液样肉瘤多显示为FUS-CREB3L2基因易位;低度恶性纤维黏液样

肉瘤多显示为FUS-CREB3L2基因易位,少数为FUS-CREB3L1和EWSR1-CREB3L1;


鉴别诊断:根据不同部位、不同年龄和不同的形态学表现,尤其是小标本时,需与硬化性上皮样纤维肉瘤的疾病包括孤立性

纤维性肿瘤、玻璃样变纤维瘤病、浸润性或转移性癌、梭形细胞型滑膜肉瘤、软组织透明细胞肉瘤、上皮样平滑肌肉瘤、硬

化性横纹肌肉瘤等;


参考文献:

1】Expanding the spectrum of translocations in sclerosing epitheloid fibrosarcoma: A new case with EWSR1-

CREB3L3 fusion.2018.

2】A rare case of TLE1-positive sclerosing epithelioid fibrosarcoma expanding the differential diagnosis of TLE1-positive tumors: a case report.2019.

3】Primary sclerosing epithelioid fibrosarcoma of the kidney: Report of two additional cases with a clinicopathological and molecular cytogenetic study.2019.

4】Primary Renal Hybrid Low-grade Fibromyxoid Sarcoma-Sclerosing Epithelioid Fibrosarcoma: An Unusual 

Pediatric Case With EWSR1-CREB3L1 Fusion.2018.

5】A genetic dichotomy between pure sclerosing epithelioid fibrosarcoma (SEF) and hybrid SEF/low-grade fibromyxoid sarcoma: a pathologic and molecular study of 18 cases.2015.

6】Mesenchymal Tumors with EWSR1 Gene Rearrangements.2019.

7】Practical Soft Tissue Pathology:A Diagnostic Approach. 2018.

8】Non-fibrosing sclerosing epithelioid fibrosarcoma: an unusual variant.2016.

9】FUS rearrangements are rare in pure sclerosing epithelioid fibrosarcoma. 2012.


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