Undifferentiated Round Cell Sarcoma With CRTC1::SS18 Fusion: Expanding Clinicopathologic Features of a Rare Translocation Sarcoma With Prominent Desmoplastic Stroma

IF 7.1 1区 医学 Q1 PATHOLOGY Modern Pathology Pub Date : 2024-07-06 DOI:10.1016/j.modpat.2024.100555
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Abstract

Undifferentiated round cell sarcomas (URCS) represent a diverse group of tumors, including conventional Ewing sarcoma, round cell sarcoma with EWSR1/FUS–non-ETS fusions, CIC-rearranged sarcoma, and sarcoma with BCOR alterations. Since 2018, 3 cases of URCS with a novel CRTC1::SS18 gene fusion have been reported in the literature. Herein, we report 3 additional cases of CRTC1::SS18 sarcoma, thereby doubling the number of described cases and expanding the clinicopathologic features of this rare translocation sarcoma. Together with the previously reported cases, we show that the male-to-female ratio is 1:2 with a median age of 34 years (range, 12-42 years). Tumors occurred primarily in intramuscular locations involving the lower extremity. Histologically, all tumors contained uniform round-to-epithelioid cells with a moderate amount of eosinophilic cytoplasm growing in sheets and nests with prominent desmoplastic stroma reminiscent of desmoplastic small round cell tumor. Immunohistochemical results were nonspecific, demonstrating variable expression of CD99 (patchy), ALK, GATA3, and cyclin D1. RNA sequencing revealed CRTC1::SS18 gene fusions in all cases, involving exons 1 to 2 of CRTC1 (the 5′ partner gene) on chromosome 19 and either exon 2 or exon 4 of SS18 (the 3′ partner gene) on chromosome 18. The clinical course was variable. Although 1 previously reported case demonstrated aggressive behavior with a fatal outcome, 2 others had a relatively indolent course with gradual growth for 6 to 7 years prior to resection. Two cases developed metastatic disease, including 1 case with bilateral lung metastasis and 1 with locoregional spread to a lymph node. By analyzing the clinicopathologic features, we aimed to improve recognition of this rare translocation sarcoma to better understand its biologic potential, optimize patient management, and expand the current classification of URCS.

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CRTC1::SS18融合的未分化圆细胞肉瘤:一种罕见易位肉瘤的临床病理特征扩展,具有突出的去肿瘤基质。
未分化圆细胞肉瘤(URCS)是一组多样化的肿瘤,包括传统的尤文肉瘤、EWSR1/FUS-non-ETS融合的圆细胞肉瘤、CIC重排肉瘤和BCOR改变的肉瘤。2018年以来,文献报道了3例伴有新型CRTC1::SS18基因融合的URCS病例。在此,我们报告了另外三例CRTC1::SS18肉瘤病例,从而使描述的病例数量翻了一番,并扩展了这种罕见易位肉瘤的临床病理特征。与之前报道的病例相比,我们发现该病例的男女比例为1:2,中位年龄为34岁(范围:12至42岁)。肿瘤主要发生在下肢肌肉内。从组织学角度看,所有肿瘤都含有均匀的圆形至上皮样细胞,细胞中含有适量的嗜酸性细胞质,成片或成巢状生长,基质中含有突出的脱鳞细胞,令人联想到脱鳞小圆形细胞瘤(DSRCT)。免疫组化结果为非特异性,显示 CD99(斑片状)、ALK、GATA3 和细胞周期蛋白 D1 表达不一。RNA 测序显示,所有病例均存在 CRTC1::SS18 基因融合,涉及 19 号染色体上 CRTC1 的 1-2 号外显子(5'伙伴基因)和 18 号染色体上 SS18 的 2 号外显子或 4 号外显子(3'伙伴基因)。临床病程多变。之前报道的一个病例具有侵袭性,最终导致死亡,而另外两个病例的病程则相对平缓,在切除前的6-7年中逐渐生长。有两例出现转移性疾病,其中一例为双侧肺转移,一例为淋巴结局部扩散。通过分析临床病理特征,我们希望提高对这种罕见易位肉瘤的识别能力,从而更好地了解其生物潜能,优化患者管理,并扩展URCS目前的分类。
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来源期刊
Modern Pathology
Modern Pathology 医学-病理学
CiteScore
14.30
自引率
2.70%
发文量
174
审稿时长
18 days
期刊介绍: Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology. Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.
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