Bourdeaut Franck, Fréneaux Paul, Thuille Bénédicte, Bergeron Christophe, Laurence Valérie, Brugières Laurence, Vérité Cécile, Michon Jean, Delattre Olivier, Orbach Daniel
Institut Curie, Departement de Pediatrie, Paris, France.
Pediatr Blood Cancer. 2008 Sep;51(3):363-8. doi: 10.1002/pbc.21632.
Rhabdoid tumours (RTs) are aggressive malignancies of childhood, mainly occurring in the kidney and brain. We describe a national multi-centre retrospective analysis of extra-renal non-cranial RTs (ERRTs).
Diagnosis relied on central histological review and/or on hSNF5/INI1 defect, evidenced by immunohistochemistry or molecular screening. Clinical data were obtained from physicians.
Twenty six patients fulfilled the inclusion criteria. Median age at diagnosis was 28 months [0-366], including late childhood and young adults cases. Surgery, either initial or secondary, was complete in three. All but three patients received chemotherapy, with variable regimens. Additional radiotherapy was used in six patients. Median time to recurrence or progression was 5 months [0-44], and one patient remained free of disease at 7 years.
ERRTs share the same chemosensitivity, early recurrence, and poor prognosis as renal and cerebral RTs. No chemotherapy regimen demonstrates a superior response.
横纹肌样瘤（RTs）是儿童期侵袭性恶性肿瘤，主要发生于肾脏和脑部。我们描述了一项关于肾外非颅横纹肌样瘤（ERRTs）的全国多中心回顾性分析。
诊断依靠中心组织学检查和/或hSNF5/INI1缺陷，通过免疫组化或分子筛查证实。临床数据由医生提供。
26例患者符合纳入标准。诊断时的中位年龄为28个月[0 - 366]，包括儿童晚期和青年成人病例。3例患者初次或二次手术完整切除。除3例患者外，所有患者均接受了化疗，化疗方案各异。6例患者接受了额外放疗。复发或进展的中位时间为5个月[0 - 44]，1例患者在7年时仍无疾病复发。
ERRTs与肾和脑RTs具有相同的化疗敏感性、早期复发和不良预后。没有化疗方案显示出更好的疗效。
