期刊
PEDIATRIC BLOOD & CANCER
卷 62, 期 10, 页码 1733-1738出版社
WILEY
DOI: 10.1002/pbc.25556
关键词
neurofibromatosis; NF1; predisposition; rhabdomyosarcoma
资金
- la Fondation de France
- Ligue Contre le Cancer
- Enfants et Sante
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.
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