Division of Pathology, Kanagawa Children's Medical Center, Yokohama City, Kanagawa, Japan.
Hum Pathol. 2010 Oct;41(10):1495-9. doi: 10.1016/j.humpath.2010.03.008. Epub 2010 Jul 24.
We report a case of anaplastic sarcoma of the kidney (ASK) with cytogenetic findings. A 12-year-old Japanese girl presented with buttock pain and urinary incontinence. Radiological investigations revealed a right renal tumor with multiple distant metastases and multicystic thyroid tumor. She underwent radical right nephrectomy and subsequently received chemotherapy and radiation therapy. Histologically, the renal tumor demonstrated admixture of various types of mesenchymal elements: cellular spindle cells with anaplastic features, cartilage, and rhabdomyoblastic cells consistent with ASK. Chromosomal analysis revealed the karyotype of the tumor cells to be 46, XX, +8, -10, der (18) t (10; 18) (q21; p11.2). The thyroid tumor was removed later and diagnosed as adenomatous goiter. To our knowledge, this is the first case of ASK with chromosomal abnormality and may provide new insight into the molecular biologic basis of this rare renal tumor.
我们报告一例伴有细胞遗传学发现的肾间叶性横纹肌肉瘤（ASK）病例。一名 12 岁日本女孩因臀部疼痛和尿失禁就诊。影像学检查显示右肾肿瘤伴多处远处转移和多房性甲状腺肿瘤。她接受了根治性右肾切除术，随后接受了化疗和放疗。组织学上，肾肿瘤显示出多种间充质成分的混合：具有间变特征的细胞性梭形细胞、软骨和横纹肌样细胞，符合 ASK。染色体分析显示肿瘤细胞的核型为 46,XX,+8,-10,der(18)t(10;18)(q21;p11.2)。甲状腺肿瘤后来被切除并诊断为腺瘤性甲状腺肿。据我们所知，这是首例伴有染色体异常的 ASK，可能为这种罕见肾肿瘤的分子生物学基础提供新的见解。
