Department of Pathology and Laboratory Medicine, Mayo Clinic Arizona, Scottsdale, Arizona, USA.
Department of Pathology, Memorial Sloan Kettering Cancer Institute, New York, New York, USA.
Diagn Cytopathol. 2022 Sep;50(9):E244-E247. doi: 10.1002/dc.24968. Epub 2022 Apr 20.
We describe an exceedingly rare cytology case of a NUTM1-rearranged sarcoma involving pleural fluid. A 48-year-old female presented with progressive abdominal pain. Computed tomography (CT) scan of the abdomen revealed a 5.6 cm soft tissue mass in the right hemi-abdomen. Needle core biopsy of the mass showed a small round cell tumor. Extensive work-up including next generation sequencing (NGS) demonstrated a NUTM1:MXI1 rearranged sarcoma. The patient was first treated with ifosfamide, carboplatin, and etoposide (ICE) chemotherapy. She responded initially and then progressed with multiple masses in the abdomen and pleural effusion. The cytology of the pleural effusion showed clusters and single small round blue cells. Some of them displayed rhabdoid morphology. Immunostains of NUT antibody on cell block demonstrated strong positivity of NUT. NUTM1-rearranged sarcoma is an emerging class of mesenchymal neoplasm and the cytomorphology of this neoplasm in liquid-based cytology (LBC) is yet to be described. We herein reported the first cytology case of NUTM1-rearranged sarcoma in pleural fluid.
我们描述了一例极为罕见的累及胸腔积液的 NUTM1 重排肉瘤的细胞学病例。一名 48 岁女性因进行性腹痛就诊。腹部计算机断层扫描 (CT) 显示右半腹部有一个 5.6 厘米的软组织肿块。肿块的针芯活检显示为小圆细胞肿瘤。广泛的检查,包括下一代测序 (NGS),显示为 NUTM1:MXI1 重排肉瘤。患者首先接受异环磷酰胺、卡铂和依托泊苷 (ICE) 化疗。她最初有反应,但随后腹部出现多个肿块和胸腔积液。胸腔积液的细胞学检查显示出簇状和单个小圆蓝细胞。其中一些显示出横纹肌样形态。细胞块上的 NUT 抗体免疫染色显示 NUT 强阳性。NUTM1 重排肉瘤是一种新兴的间充质肿瘤,其在液基细胞学 (LBC) 中的细胞学形态尚未被描述。我们在此报告了首例胸腔积液中 NUTM1 重排肉瘤的细胞学病例。