Nagasaki-Maeoka Eri, Shimozawa Katsuyoshi, Ueno Masaru, Saiki Kanako, Yagasaki Hiroshi, Nishimaki-Watanabe Haruna, Tsujimura Ryusuke, Nakano Yoshiko, Kato Motohiro, Koshinaga Tsugumichi, Uehara Shuichiro
Department of Pediatric Surgery, Nihon University School of Medicine, Tokyo, Japan.
Department of Pediatric Surgery, Jichi Medical University, Saitama Medical Center, Saitama, Saitama, Japan.
Surg Case Rep. 2025;11(1). doi: 10.70352/scrj.cr.25-0010. Epub 2025 Aug 14.
Anaplastic sarcoma of the kidney (ASK) is a rare renal tumor, with fewer than 50 cases reported in the literature since 2007. ASK is pathologically characterized by the presence of cystic and solid areas consisting of spindle cells showing marked anaplasia. Recent studies have reported that the vast majority of patients with ASK have variants, and that these tumors are part of the syndrome, a hereditary cancer predisposition disorder. Herein, we report a pediatric case of this rare tumor, including pathological findings, gene analysis of the tumor and peripheral blood samples, and the disease course.
A previously healthy 2-year-old girl presented with gross hematuria and a mass in her right abdomen. She had a family history of tumor; her eldest maternal aunt had developed rhabdomyosarcoma, another maternal aunt had follicular thyroid cancer, and her maternal grandmother had a benign thyroid tumor. Imaging revealed a 10-cm tumor with conspicuous internal cystic structures in the right kidney. The patient underwent right nephrectomy, removing a tumor measuring 12.5 × 9 × 8 cm that contained cystic and solid parts. The tumor was composed of spindle-shaped cells with anaplastic changes. Finally, the diagnosis of ASK was established. The treatment regimen, in accordance with the therapy for clear cell sarcoma of the kidney or diffuse anaplasia type Wilms tumor, was administered. Based on the diagnosis of ASK and the family history of -associated tumors, syndrome was suspected. Sequencing of the hotspot region (i.e., RNase IIIb domain) using tumor specimen and coding regions using blood sample in the revealed somatic c.5125G>A (p.D1709N) and germline c.4458dupA (p.S1487Ifs*5). Two years have passed since the end of treatment, and the patient is alive and healthy without evidence of tumor recurrence.
Treatment with intensive chemotherapy (vincristine, doxorubicin, etoposide, and cyclophosphamide) and abdominal irradiation was effective as 2-year event-free survival was achieved. Since syndrome causes a variety of rare cancers, particularly in infants and young adults, all surgeons and pediatric oncologists should be aware of the possibility of syndrome.
肾间变性肉瘤（ASK）是一种罕见的肾脏肿瘤，自2007年以来文献报道的病例少于50例。ASK的病理特征是存在由显示明显间变的梭形细胞组成的囊性和实性区域。最近的研究报告称，绝大多数ASK患者存在变异，并且这些肿瘤是综合征的一部分，这是一种遗传性癌症易感性疾病。在此，我们报告一例该罕见肿瘤的儿科病例，包括病理结果、肿瘤及外周血样本的基因分析以及病程。
一名既往健康的2岁女孩出现肉眼血尿和右腹部肿块。她有肿瘤家族史；她的大姨患横纹肌肉瘤，另一位大姨患滤泡性甲状腺癌，她的外祖母患良性甲状腺肿瘤。影像学检查显示右肾有一个10厘米的肿瘤，内部有明显的囊性结构。患者接受了右肾切除术，切除了一个大小为12.5×9×8厘米的肿瘤，该肿瘤包含囊性和实性部分。肿瘤由具有间变改变的梭形细胞组成。最终，确诊为ASK。按照肾透明细胞肉瘤或弥漫性间变型威尔姆斯瘤的治疗方案进行治疗。基于ASK的诊断和相关肿瘤的家族史，怀疑为综合征。使用肿瘤标本对热点区域（即核糖核酸酶IIIb结构域）进行测序，并使用血液样本对基因的编码区域进行测序，结果显示体细胞突变c.5125G>A（p.D1709N）和种系突变c.4458dupA（p.S1487Ifs*5）。治疗结束至今已过去两年，患者存活且健康，无肿瘤复发迹象。
强化化疗（长春新碱、阿霉素、依托泊苷和环磷酰胺）及腹部放疗有效，实现了2年无事件生存。由于综合征会引发多种罕见癌症，尤其是在婴幼儿和年轻人中，所有外科医生和儿科肿瘤学家都应意识到综合征的可能性。
