Imprint cytology of biphenotypic sinonasal sarcoma of the paranasal sinus: A case report

Imprint cytology of biphenotypic sinonasal sarcoma of the paranasal sinus: A case report
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鼻旁窦双表型鼻窦肉瘤的印记细胞学:一例报告

DOI:
10.1002/dc.24142
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发表时间:
2019
影响因子:
1.3
通讯作者:
Hasegawa Tadashi
Hasegawa Tadashi
中科院分区:
医学4区
文献类型:
--
作者:
Sugita Shintaro;Kubo Terufumi;Aoyama Tomoyuki;Moriya Jun;Okuni Tsuyoshi;Wanibuchi Masahiko;Yamashita Ken;Onodera Maki;Tsujiwaki Mitsuhiro;Segawa Keiko;Sugawara Taro;Hasegawa Tadashi

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双表型鼻窦肉瘤(BSNS)是一种罕见的低度梭形细胞肉瘤,主要发生在鼻窦道多发性肿瘤的中年女性。BSNS在免疫组织化学(IHC)上显示神经和肌源性标志物的双表型表达,具有特异性嵌合PAX 3-MAML 3融合。BSNS的细胞学特征至今未见报道。在这里,我们描述了一个案件的BSNS包括结果的印记细胞学,组织学,免疫组化和遗传分析。一名30岁的女性患者因结节性肿瘤完全占据筛窦而就诊。切除肿瘤并提交进行印片细胞学检查,结果显示相对温和的梭形肿瘤细胞,具有轻度增大的椭圆形至梭形核,核染色质细小,核边缘较薄,背景清晰。核仁不明显,无明显的核分裂和多形性。这些细胞学结果与BSNS中低度梭形细胞肉瘤的组织学结果一致。免疫组化显示肿瘤细胞S-100蛋白和α-平滑肌肌动蛋白灶性阳性,细胞核内β-catenin表达阳性,52%的肿瘤细胞荧光原位杂交检测到PAX 3裂解信号。逆转录-聚合酶链反应也鉴定了嵌合PAX 3-MAML 3融合基因。根据这些发现,我们诊断为BSNS肿瘤。我们的研究结果显示,一个相对温和的梭形细胞细胞学与清晰的背景是一个典型的特征BSNS。因此,BSNS应与良性和外观温和的恶性梭形细胞肿瘤相鉴别,细胞学、组织学、IHC和遗传分析的结合有助于BSNS的诊断。
Biphenotypic sinonasal sarcoma (BSNS) is a rare low‐grade spindle cell sarcoma that predominantly affects middle‐aged women with multiple tumors in the sinonasal tract. BSNS shows biphenotypic expression of neural and myogenic markers on immunohistochemistry (IHC) with a specific chimericPAX3‐MAML3fusion. The cytological features of BSNS have so far not been reported. Here, we describe a case of BSNS including findings of imprint cytology, histology, IHC, and genetic analysis. A 30‐year‐old woman presented with a nodular tumor that completely occupied the ethmoid sinus. The tumor was resected and submitted for imprint cytology, which revealed relatively bland spindle tumor cells that had mildly enlarged oval to spindle‐shaped nuclei with fine nuclear chromatin and a thin nuclear rim in a clear background. Nucleoli were inconspicuous and there was no significant nuclear atypia and pleomorphism. These cytological findings were consistent with the histology of low‐grade spindle cell sarcoma in BSNS. On IHC, the tumor cells were focally positive for S‐100 protein and α‐smooth muscle actin; nuclear β‐catenin expression was also seen.PAX3split signals were detected in 52% of tumor cells by fluorescence in situ hybridization. Reverse transcriptase‐polymerase chain reaction also identified a chimericPAX3‐MAML3fusion gene. Based on these findings, we diagnosed the tumor as BSNS. Our findings revealed that a relatively bland spindle cell cytology with a clear background is a characteristic feature of BSNS. BSNS should therefore be differentiated from benign and bland‐appearing malignant spindle cell tumors and the combination of cytology, histology, IHC, and genetic analysis facilitates the diagnosis of BSNS.
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