Hirose M, Yamada T, Toyosaka A, Hirose T, Kagami S, Abe T, Kuroda Y
Department of Pediatrics, Tokushima University School of Medicine, Japan.
Med Pediatr Oncol. 1996 Sep;27(3):174-8. doi: 10.1002/(SICI)1096-911X(199609)27:3<174::AID-MPO7>3.0.CO;2-B.
Malignant rhabdoid tumor is a rare, aggressive, invariably lethal tumor that is resistant to multimodal treatment. In this report, two patients with malignant rhabdoid tumor of the kidney (RTK) are described. The first patient is the first case of RKT with hyperreninemia, and the second case is also the first case with a specific chromosomal abnormality, del 11p13. The first patient presented with hematuria and a mass in the left kidney. Plasma renin, angiotensin, and aldosterone levels were elevated and paralleled the tumor progression. The karyotype of the tumor cells was normal (46,XX). In the second patient, who presented with a mass in the right kidney, the concentration of plasma tissue polypeptide antigen was elevated and paralleled the tumor progression. The karyotype of the tumor cells was 46,XX, del(11)(pter-p13::p12-qter). RTK with a cytogenetic abnormality of del(11p13), which is usually found in aniridia-Wilms' tumor syndrome, has not been known. Both patients died of metastatic disease within 7 months of diagnosis in spite of the multimodal therapy. The clinicopathology of RTK and the differences between Wilms' tumor and RTK raise compelling questions which should be the subject of future studies.
恶性横纹肌样瘤是一种罕见、侵袭性强且几乎总是致命的肿瘤，对多模式治疗具有抗性。在本报告中，描述了两名患有肾恶性横纹肌样瘤（RTK）的患者。首例患者是首例伴有高肾素血症的肾恶性横纹肌样瘤病例，第二例患者也是首例伴有特定染色体异常（11p13缺失）的病例。首例患者表现为血尿和左肾肿块。血浆肾素、血管紧张素和醛固酮水平升高，并与肿瘤进展平行。肿瘤细胞的核型正常（46,XX）。第二例患者表现为右肾肿块，血浆组织多肽抗原浓度升高，并与肿瘤进展平行。肿瘤细胞的核型为46,XX，del(11)(pter-p13::p12-qter)。具有11p13缺失细胞遗传学异常的肾恶性横纹肌样瘤通常见于无虹膜-威尔姆斯瘤综合征，此前尚无相关报道。尽管接受了多模式治疗，两名患者均在诊断后7个月内死于转移性疾病。肾恶性横纹肌样瘤的临床病理学以及威尔姆斯瘤与肾恶性横纹肌样瘤之间的差异引发了引人关注的问题，这些问题应成为未来研究的主题。
