Background/Objectives:The fusion of theTFCP2gene with eitherEWSR1orFUStypically results in a spindle cell and/or epithelioid variant of rhabdomyosarcoma. This is an ultra-rare type of sarcoma, with most of our knowledge about these coming from case reports and small case series. Herein, we describe the clinical characteristics and treatment course of 10 patients withTFCP2fusion sarcomas.Methods: We identified 10 patients in our hospital system withTFCP2fusion sarcomas and 43 previously reported cases in the literature. We assessed primary tumor characteristics, treatment regimens, and survival rates among all cases.Results:We find thatTFCP2fusion sarcomas most commonly occur in young adults (median age: 33 years) and arise in craniofacial bones (7/10, 70%). ConcomitantALKalterations and ALK overexpression is nearly universal, and two of our patients were treated with ALK inhibitors; one patient had a near complete response before eventual progression, while the other patient had progressive disease after 2 months. For most, the prognosis was poor. The median overall survival in this cohort was 24.7 months (range: 5.9–29.7 months). Four patients were treated with upfront surgery, and all four developed recurrent disease. The median time to recurrence following upfront surgery was 2.1 months (range: 0.73–6.9 months). Five patients received systemic therapy, and the median progression-free survival from the start of treatment to progression was 1.6 months (range: 0.97–2.7). We also review the 53 total cases ofTFCP2fusion sarcomas in the literature, again highlighting the dismal outcomes in this disease.Conclusions:TFCP2fusion sarcomas are proven to be aggressive and have poor prognosis. Additional work is needed to define the optimal treatment course forTFCP2fusion sarcomas.
背景/目的：TFCP2基因与EWSR1或FUS融合通常会导致梭形细胞和/或上皮样变异型横纹肌肉瘤。这是一种极其罕见的肉瘤类型，我们对其认知主要来源于病例报告和小型病例系列。本文中，我们描述了10例TFCP2融合肉瘤患者的临床特征及治疗过程。方法：我们在本院系统中识别出10例TFCP2融合肉瘤患者，并结合文献中既往报道的43例病例。我们评估了所有病例的原发肿瘤特征、治疗方案及生存率。结果：我们发现TFCP2融合肉瘤最常见于青年（中位年龄：33岁），好发于颅面骨（7/10，70%）。伴随的ALK基因改变及ALK过表达几乎普遍存在，其中两名患者接受了ALK抑制剂治疗：一例在最终进展前达到接近完全缓解，另一例则在治疗2个月后出现疾病进展。多数患者预后不良，本队列中位总生存期为24.7个月（范围：5.9-29.7个月）。4例患者接受前期手术治疗，均出现疾病复发，术后中位复发时间为2.1个月（范围：0.73-6.9个月）。5例患者接受全身治疗，从治疗开始至进展的中位无进展生存期为1.6个月（范围：0.97-2.7个月）。我们还综述了文献中总计53例TFCP2融合肉瘤病例，再次凸显了该疾病的严峻预后。结论：TFCP2融合肉瘤被证实具有侵袭性强、预后差的特点。需要进一步研究以明确TFCP2融合肉瘤的最佳治疗方案。
TFCP2 Fusion-Positive Rhabdomyosarcomas: A Report of 10 Cases and a Review of the Literature
肿瘤(癌症)患者之家