Schwab Hannah, Kerkhoff Maximilian, Plaumann Pauline, Collaud Stéphane, Dirksen Uta, Theegarten Dirk, Herold Thomas, Kalbourtzis Stavros, Bölükbas Servet, Hegedüs Balazs, Hegedüs Luca
Department of Thoracic Surgery, University Medicine Essen - Ruhrlandklinik, Essen, Germany.
Pediatrics III, West German Cancer Center, University Medicine Essen, Essen, Germany.
Pathol Oncol Res. 2025 Mar 11;31:1611986. doi: 10.3389/pore.2025.1611986. eCollection 2025.
Sarcomas with an EWSR1::POU2AF3(COLCA2) fusion are a very recently described entity of preferentially sinonasal origin and with undifferentiated round/spindle cell morphology. We established a novel cell line (PF1095) carrying a EWSR1::POU2AF3 fusion from the malignant pleural effusion of a 25-year-old sarcoma patient. The patient was first diagnosed with poorly differentiated neuroendocrine carcinoma based on tumor cell morphology and positivity to markers such as EMA, synaptophysin, and CD56. Later, the EWSR1 translocation was identified in the tumor cells with unknown partners and the patient received chemotherapy according to the Ewing 2008 protocol in combination with surgery and proton beam radiotherapy. At the time of cell line establishment, the disease progressed to pleural sarcomatosis with pleural effusion. In the cell line, we identified POU2AF3 as a fusion partner of EWSR1 and a TP53 frameshift deletion. Next, we determined the sensitivity of PF1095 cells to the currently approved chemotherapies in comparison to two conventional Ewing sarcoma lines (EW-7 and MHH-ES1) with the two most frequent EWSR::FLI1 fusions. Finally, we tested potential new combination therapies. We performed cell viability, proliferation, and cell cycle assays. We found that the proliferation rate of PF1095 cells was much slower than the EWSR1::FLI1 fusion lines and they also had a lower sensitivity to both irinotecan and doxorubicin treatment. Expression level of SLFN11, a predictor of sensitivity to DNA damaging agents, was also lower in PF1095 cells. Combination treatment with the PARP inhibitors olaparib and irinotecan or doxorubicin synergistically reduced cell viability and induced cell death and cell cycle arrest. This unique cell model provides an opportunity to test therapeutic approaches preclinically for this novel and aggressive sarcoma entity.
具有EWSR1::POU2AF3(COLCA2)融合的肉瘤是一种最近才被描述的实体,主要起源于鼻窦,具有未分化的圆形/梭形细胞形态。我们从一名25岁肉瘤患者的恶性胸腔积液中建立了一种携带EWSR1::POU2AF3融合的新型细胞系(PF1095)。该患者最初根据肿瘤细胞形态以及对EMA、突触素和CD56等标志物的阳性反应被诊断为低分化神经内分泌癌。后来,在肿瘤细胞中鉴定出EWSR1易位,但融合伴侣未知,患者根据2008年尤因肉瘤方案接受了化疗,并结合手术和质子束放疗。在建立细胞系时,疾病进展为伴有胸腔积液的胸膜肉瘤病。在该细胞系中,我们鉴定出POU2AF3是EWSR1的融合伴侣,并且存在TP53移码缺失。接下来,与两种最常见的EWSR::FLI1融合的传统尤因肉瘤细胞系(EW-7和MHH-ES1)相比,我们确定了PF1095细胞对目前已批准化疗药物的敏感性。最后,我们测试了潜在的新联合疗法。我们进行了细胞活力、增殖和细胞周期分析。我们发现PF1095细胞的增殖速率比EWSR1::FLI1融合细胞系慢得多,并且它们对伊立替康和阿霉素治疗的敏感性也较低。对DNA损伤剂敏感性的预测指标SLFN11在PF1095细胞中的表达水平也较低。PARP抑制剂奥拉帕利与伊立替康或阿霉素联合治疗可协同降低细胞活力,诱导细胞死亡和细胞周期停滞。这种独特的细胞模型为在临床前测试针对这种新型侵袭性肉瘤实体的治疗方法提供了机会。