Rhabdomyosarcomas in children with neurofibromatosis type I: A national historical cohort
Rhabdomyosarcomas in children with neurofibromatosis type I: A national historical cohort
复制标题
DOI：
10.1002/pbc.25556
复制
发表时间：
2015-10-01
影响因子：
3.2
通讯作者：
Bourdeaut, Franck
中科院分区：
文献类型：
--
作者：
Crucis, Anne;Richer, Wilfrid;Bourdeaut, Franck
横纹肌肉瘤（RMS）偶尔发生在易感综合征的背景下。最常见的易感综合征包括生殖系TP 53突变和RAS通路激活的组成性改变，如Costello综合征、努南综合征和1型神经纤维瘤病。我们报告了一个国家的回顾性系列16 RMS发生在神经纤维瘤病1型（NF 1）患者在儿童时期，在20年的period.ResultsThe平均年龄诊断的癌症是2.5年。均为胚胎亚型。大多数肿瘤发生在骨盆。一个是转移性的。化疗和放疗正常安排，没有任何特定的毒性。5年无事件生存率和总生存率分别为67%和87%。与化疗相关的长期后遗症包括两种慢性肾小管病变，因此与非NF 1患者无明显差异。到目前为止，没有报告第二种癌症，中位随访时间为9.7年。对六个样本进行的基因组分析揭示了散发性RMS中常见的异常：2号染色体（5/6）、8号染色体（6/6）和11号染色体杂合性丢失（5/6）。有趣的是，我们确定了肿瘤抑制基因的小缺失，可能协同与NF 1 inactivation.ConclusionsPatients与神经纤维瘤病容易发展胚胎型RMS，需要相同的治疗作为散发病例。儿科血液癌症2015;62：1733-1738。(c)2015 Wiley Periodicals，Inc.
BackgroundRhabdomyosarcoma (RMS) occasionally occurs in a context of a predisposition syndrome. The most common predisposition syndromes include germline TP53 mutations and constitutive alterations in RAS pathway activation, such as Costello syndrome, Noonan syndrome and neurofibromatosis type 1. We report a national retrospective series of 16 RMS occurring in neurofibromatosis type 1 (NF1) patients during childhood, within a 20-year period.ResultsThe mean age at diagnosis of the cancer was 2.5 years. All were embryonal subtype. Most tumours developed in the pelvis. One was metastatic. Chemotherapy and radiotherapy were normally scheduled without any specific toxicity. The 5-year event-free survival and overall survival were 67% and 87%, respectively. Long-term sequel related to chemotherapy consisted in two chronic tubulopathies, hence not obviously different from non-NF1 patients. No second cancer was reported so far with a median follow-up of 9.7 years. The genomic analysis performed on six samples revealed the abnormalities commonly observed in sporadic RMS: gain of chromosome 2 (5/6), 8 (6/6) and chromosome 11p loss of heterozygosity (5/6). Interestingly, we identified small deletions in tumour suppressor genes that may synergize with NF1 inactivation.ConclusionsPatients with neurofibromatosis are prone to develop embryonal-type RMS that require the same treatment as sporadic cases. Pediatr Blood Cancer 2015;62:1733-1738. (c) 2015 Wiley Periodicals, Inc.