Zalles Nicole, Mukhopadhyay Sanjay, Satturwar Swati, Lajara Sigfred, Khader Samer, Pantanowitz Liron, Elsheikh Tarik M
Department of Pathology, Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Department of Pathology, The Ohio State University, Columbus, Ohio, USA.
Cancer Cytopathol. 2025 Jan;133(1):e22919. doi: 10.1002/cncy.22919. Epub 2024 Nov 18.
Thoracic switch/sucrose nonfermentable-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4)-deficient (SD) malignancies, including SD undifferentiated tumor (SD-UT) and SD non-small cell lung carcinoma (SD-NSCLC), have been recently described. The cytologic features of these neoplasms in fine-needle aspiration (FNA) and effusion specimens have rarely been reported in the literature. This study aimed to describe and compare the spectrum of cytologic, immunohistochemical, and clinical features of these high-grade malignancies recently encountered at the participating institutions.
This study documented clinical and imaging characteristics of tumors from 27 patients. Sixteen cytomorphologic features and immunohistochemical findings were compared between SD-UT and SD-NSCLC samples.
Twenty three FNAs, two bronchial brushings, and two pleural fluids were evaluated, including 17 SD-UT cases (mean patient age, 70 years) and 10 SD-NSCLC cases (mean patient age, 62 years). Both malignancies presented with large thoracic masses and/or hilar/mediastinal lymphadenopathy. All SD-UT cytologic samples had a discohesive or mixed cohesive-discohesive architecture, and most (13 of 17) showed predominant rhabdoid or mixed rhabdoid-epithelioid features. Most SD-NSCLC cytologic samples (nine of 10) were either cohesive or mixed cohesive-discohesive and had a predominantly epithelioid morphology (eight of 10). Keratins and claudin-4 were negative or focally positive in SD-UT samples, whereas they were diffusely positive in SD-NSCLC samples. Both malignancies were negative for TTF-1 and p40/p63 and showed loss of expression of SMARCA4.
Although there is considerable clinical and cytopathologic overlap between SD-UT and SD-NSCLC, some key features allow for their distinction. SD-UT is mostly discohesive with rhabdoid or mixed rhabdoid-epithelioid features, whereas SD-NSCLC often has cohesive epithelioid morphology. The combination of clinical presentation, cytomorphology, and immunohistochemistry is essential for a definitive diagnosis.
胸段开关/蔗糖非发酵相关、基质相关、肌动蛋白依赖性染色质调节因子A亚家族成员4（SMARCA4）缺陷（SD）恶性肿瘤，包括SD未分化肿瘤（SD-UT）和SD非小细胞肺癌（SD-NSCLC），最近已被描述。这些肿瘤在细针穿刺（FNA）和积液标本中的细胞学特征在文献中鲜有报道。本研究旨在描述和比较参与机构近期遇到的这些高级别恶性肿瘤的细胞学、免疫组织化学和临床特征谱。
本研究记录了27例患者肿瘤的临床和影像学特征。比较了SD-UT和SD-NSCLC样本的16种细胞形态学特征和免疫组织化学结果。
评估了23份FNA、2份支气管刷检和2份胸腔积液样本，包括17例SD-UT病例（患者平均年龄70岁）和10例SD-NSCLC病例（患者平均年龄62岁）。两种恶性肿瘤均表现为胸部巨大肿块和/或肺门/纵隔淋巴结肿大。所有SD-UT细胞学样本均具有松散或混合的紧密-松散结构，且大多数（17例中的13例）表现出主要的横纹肌样或混合的横纹肌样-上皮样特征。大多数SD-NSCLC细胞学样本（10例中的9例）为紧密或混合的紧密-松散结构，且主要具有上皮样形态（10例中的8例）。细胞角蛋白和claudin-4在SD-UT样本中为阴性或局灶性阳性，而在SD-NSCLC样本中为弥漫性阳性。两种恶性肿瘤的TTF-1和p40/p63均为阴性，并显示SMARCA4表达缺失。
尽管SD-UT和SD-NSCLC之间存在相当大的临床和细胞病理学重叠，但一些关键特征有助于区分它们。SD-UT大多为松散结构，具有横纹肌样或混合的横纹肌样-上皮样特征，而SD-NSCLC通常具有紧密的上皮样形态。临床表现、细胞形态学和免疫组织化学的结合对于明确诊断至关重要。
