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经超声支气管镜引导针吸活检(EBUS-TBNA)诊断并经细胞遗传学证实的低分化原发性肺滑膜肉瘤(PD-PPSS)的不典型表现——一项诊断挑战

Unusual presentation of poorly differentiated primary pulmonary synovial sarcoma (PD-PPSS) diagnosed by EBUS-TBNA with cytogenetic confirmation-A diagnostic challenge.

作者信息

Dalal Sharvari, Nicholson Charles E, Jhala Darshana

机构信息

Philadelphia VA Medical Center, Philadelphia, Pennsylvania.

University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

出版信息

Diagn Cytopathol. 2018 Jan;46(1):72-78. doi: 10.1002/dc.23798. Epub 2017 Aug 18.

Abstract

Poorly differentiated primary pulmonary synovial sarcoma (PD-PPSS) is a rare, aggressive neoplasm, which occurs in 0.5% cases of all lung malignancies. The diagnosis of PD-PPSS can be very challenging on cytology samples. We present here an unusual case of PD-PPSS diagnosed by endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA), in the setting of known history of diffuse large B-cell lymphoma. Diff-Quik and Papanicolaou stains showed cellular specimen with clusters of highly atypical small round blue cells admixed with lymphoid elements; and some with denuded cytoplasm. Cell block further showed molding, crush artifact and atypical mitotic figures. A differential diagnosis based on extended immunohistochemical work-up was Ewing?s sarcoma/PNET versus poorly differentiated synovial sarcoma. Fluorescent in-situ hybridization (FISH) showed SYT gene rearrangement at 18q11.2. In this report, we describe the cytomorphological features, diagnostic pitfalls, challenges, potential mimics, and importance of acquisition of adequate material for the ancillary work-up on the cell block.

摘要

低分化原发性肺滑膜肉瘤(PD-PPSS)是一种罕见的侵袭性肿瘤,在所有肺恶性肿瘤中占0.5%。在细胞学样本上诊断PD-PPSS可能极具挑战性。我们在此介绍一例通过支气管内超声引导下经支气管针吸活检(EBUS-TBNA)诊断的不寻常的PD-PPSS病例,该病例患者有弥漫性大B细胞淋巴瘤病史。Diff-Quik和巴氏染色显示细胞标本中有成群的高度非典型小圆形蓝色细胞,并混有淋巴样成分;部分细胞有裸露的细胞质。细胞块进一步显示出细胞巢状排列、挤压假象和非典型有丝分裂象。基于广泛免疫组化检查的鉴别诊断为尤因肉瘤/原始神经外胚层肿瘤(Ewing's sarcoma/PNET)与低分化滑膜肉瘤。荧光原位杂交(FISH)显示18q11.2处存在SYT基因重排。在本报告中,我们描述了细胞形态学特征、诊断陷阱、挑战、潜在的相似病变以及获取足够材料用于细胞块辅助检查的重要性。

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