Maaita Ward, Hasasna Nabil, Yaser Sameer, Saleh Yacob, Abu-Hijlih Ramiz, Asha Wafa, Halalsheh Hadeel, Abdel Al Samer, Al-Hussaini Maysa, Jaber Omar
Department of Pathology and Laboratory Medicine, King Hussein Cancer Center, Amman P.O. Box 1269, Jordan.
Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Amman P.O. Box 1269, Jordan.
Diagnostics (Basel). 2025 Jul 11;15(14):1758. doi: 10.3390/diagnostics15141758.
: -rearranged sarcoma is a rare and aggressive type of undifferentiated round cell tumor characterized by gene fusion, most commonly This study presents a series of eleven cases, highlighting their clinicopathological features. : Pathology records (2019 to 2024) were searched using "sarcoma with ", identifying eleven cases, of which seven referred cases were initially misdiagnosed. Pathological and clinical analysis was conducted. Treatment was dictated upon multidisciplinary panel discussion based on tumor stage. Follow-up data (1-25 months) was available for all patients. : The cohort included six males and five females, with a median age of 43 years (range;14-53), with nine in soft tissue and two in bone. Tumor size ranged from 3.5 cm to 20.0 cm (mean: 9.8 cm). Most cases showed sheets of undifferentiated round- to oval-shaped cells. Two cases showed an Ewing-like pattern, and one case showed spindle cells in a fibrotic stroma transitioning to epithelioid cells. Necrosis was present in nine cases, and mitotic count ranged from 2 to 38/ 10HPFs (mean = 14.2). CD99 was positive in (10/11) cases and WT-1 in (6/9). NKX2.2, S100, and MDM2 were positive in rare cases. fusion was detected in four cases. FISH for gene rearrangement was positive in seven cases, two of them confirmed by methylation analysis. Metastasis at diagnosis was common (n = 8), primarily in the lungs, with later metastasis to the brain and bone. At time of final analysis, eight patients died within a median of 10 months (range: 1-19 months), while three were alive, two with stable disease (for a period of 6 and 25 months) and one with progression after 10 months. Significant correlation was seen between overall survival and the presence of metastasis at diagnosis ( value = 0.03). : -rearranged sarcomas are rare, high-grade tumors with predilection for soft tissue. Misdiagnosis is frequent, necessitating molecular confirmation. These tumors are treatment-resistant, often present with lung metastasis, and carry a poor prognosis, especially with initial metastasis.
-重排肉瘤是一种罕见且侵袭性强的未分化圆形细胞肿瘤，其特征为基因融合，最常见的是 本研究报告了一系列11例病例，突出了它们的临床病理特征。：使用“伴有肉瘤”检索病理记录（2019年至2024年），确定了11例病例，其中7例转诊病例最初被误诊。进行了病理和临床分析。根据肿瘤分期，在多学科小组讨论后决定治疗方案。所有患者均有随访数据（1至25个月）。：该队列包括6名男性和5名女性，中位年龄为43岁（范围：14至53岁），9例位于软组织，2例位于骨组织。肿瘤大小范围为3.5厘米至20.0厘米（平均：9.8厘米）。大多数病例显示成片的未分化圆形至椭圆形细胞。2例显示尤因样模式，1例在纤维化间质中显示梭形细胞并过渡为上皮样细胞。9例存在坏死，有丝分裂计数范围为2至38/10个高倍视野（平均=14.2）。CD99在10/11例中呈阳性，WT-1在6/9例中呈阳性。NKX2.2、S100和MDM2在罕见病例中呈阳性。4例检测到 融合。7例基因重排的荧光原位杂交检测呈阳性，其中2例经甲基化分析证实。诊断时转移常见（n = 8），主要转移至肺部，随后转移至脑和骨。在最终分析时，8例患者在中位10个月（范围：1至19个月）内死亡，3例存活，2例病情稳定（分别为6个月和25个月），1例在10个月后病情进展。总体生存率与诊断时转移的存在之间存在显著相关性（ 值 = 0.03）。：-重排肉瘤是罕见的高级别肿瘤，好发于软组织。误诊很常见，需要进行分子确诊。这些肿瘤对治疗耐药，常伴有肺转移，预后较差，尤其是伴有初始转移时。
