Owosho Adepitan A, Estilo Cherry L, Huryn Joseph M, Zhang Lei, Fletcher Christopher D M, Antonescu Cristina R
Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY, USA.
Head Neck Pathol. 2017 Dec;11(4):450-459. doi: 10.1007/s12105-017-0808-z. Epub 2017 Mar 23.
CIC-rearranged sarcoma (CRS) is a relatively new entity defined by its pathognomonic genetic signature and undifferentiated round cell phenotype, initially grouped together with the 'Ewing sarcoma-like tumors'. However, increasing data suggest that these tumors should be regarded as a stand-alone pathologic entity. We conducted a clinicopathologic analysis on molecularly conformed Ewing sarcoma (ES) and CRS arising in the head and neck (HN) and compared to a well characterized cohort of ES and CRS from other locations. A total of 41 HN round cell sarcoma patients were selected from our institutional and consultation files, including 25 ES (median 20 years) and 16 CRS (median 29 years). Clinical follow-up information was available for all ES patients, ranging from 4 to 436 months (median 70 months), while for CRS, follow-up information was available in 11 patients (69%), ranging from 1 to 269 months (median 27 months). The most common location for ES was the facial and jaw bones (56%), while CRS occurred exclusively in the soft tissue, commonly in the neck. CRS showed variable CD99 staining in 75% of cases and diffuse WT1 (6/6) reactivity, while all ES expressed diffuse membranous staining for CD99 but none for WT1 (0/6). The 2-year overall survival (OS) rate for HN-CRS patients was 78%, while for HN-ES it was 100%. The OS of ES and CRS showed a trend toward a favorable outcome for HN-round cell sarcomas compared to other sites. Our findings suggest that HN-CRS have different clinical presentation and pathologic features compared to ES and should be classified as a stand-alone pathologic entity.
CIC重排肉瘤(CRS)是一种相对较新的实体,由其特征性的基因特征和未分化的圆形细胞表型所定义,最初与“尤因肉瘤样肿瘤”归为一类。然而,越来越多的数据表明,这些肿瘤应被视为一个独立的病理实体。我们对头颈部(HN)发生的分子确诊的尤因肉瘤(ES)和CRS进行了临床病理分析,并与来自其他部位的特征明确的ES和CRS队列进行了比较。从我们机构的病例档案和会诊记录中选取了41例HN圆形细胞肉瘤患者,其中包括25例ES(中位年龄20岁)和16例CRS(中位年龄29岁)。所有ES患者均有临床随访信息,随访时间为4至436个月(中位70个月),而CRS患者中11例(69%)有随访信息,随访时间为1至269个月(中位27个月)。ES最常见的部位是面骨和颌骨(56%),而CRS仅发生于软组织,常见于颈部。CRS在75%的病例中显示CD99染色可变,WT1呈弥漫性反应(6/6),而所有ES均表达CD99弥漫性膜染色,但WT1均无表达(0/6)。HN-CRS患者的2年总生存率(OS)为78%,而HN-ES为100%。与其他部位相比,HN圆形细胞肉瘤的ES和CRS的OS显示出预后良好的趋势。我们的研究结果表明,与ES相比,HN-CRS具有不同的临床表现和病理特征,应被归类为一个独立的病理实体。