Soft‐tissue sarcomas in children and adolescents with neurofibromatosis type 1

Abstract

BACKGROUNDPatients affected by neurofibromatosis type 1 (NF1) are at higher risk of developing soft‐tissue sarcomas (STS) than the general population. The clinical findings and outcome in 43 children and adolescents with NF1 treated for STS in the Italian protocols between 1988 and 2004 are reported.METHODSThe study included 37 patients with neurogenic sarcomas (36 malignant peripheral nerve sheath tumors [MPNST], 1 triton tumor) and 6 cases of rhabdomyosarcoma (RMS). The prevalence of NF1 observed during the study period was 43% in the MPNST population and 1% in the RMS group.RESULTSMost patients with neurogenic sarcomas had large, invasive tumors. Five‐year event‐free and overall survival rates were 19% and 28%, respectively. Two of 16 patients with evaluable disease responded to chemotherapy. All 6 RMS patients were ≤3 years old and had embryonal subtype, 5 of 6 arising in the genitourinary tract or pelvis (paravesical); 4 were alive in first remission at the time of the analysis, 1 was alive in second remission after a local recurrence, and 1 died of disease.CONCLUSIONSThe occurrence of STS in pediatric patients with NF1 syndrome in Italy is discussed, confirming that NF1 patients have a high risk of developing STS, and particularly MPNST, often with an aggressive clinical presentation and poor outcome. Cases of RMS tended to have particular features (early age, embryonal histotype, genitourinary site) and their outcome seemed to resemble that of the general RMS population. Cancer 2007 © 2007 American Cancer Society.

Life expectancy in hereditary cancer predisposing diseases: an observational study

“…The majority of existing research has focused on the more common conditions of NF1 and FAP, and on highly specific situations such as survival post-surgery24 or survival from tumour development 25–27. Many reports consider 1 year or 5 year survival but do not cover extended periods,28 29 nor do they use large patient cohorts. This study therefore sought to calculate life expectancy of NF1, NF2, FAP, VHL, and GS patients who were highly ascertained in the Manchester region (as indicated by our recent assessments of disease prevalence that are among the highest published1), and compare these to the life expectancy of the general population.…”

Birth characteristics and the risk of childhood rhabdomyosarcoma based on histological subtype

“…Owing to the early age of onset, in utero exposures have been suggested to have a role in its aetiology, including in utero X-ray exposure (Grufferman, 1991(Grufferman, , 2009, maternal drug use (Grufferman et al, 1993(Grufferman et al, , 1982, advanced maternal age (Grufferman, 1991) and stillbirths (Ghali et al, 1992). In addition, several familial syndromes (Diller et al, 1995;DeBaun and Tucker, 1998;Samuel et al, 1999;Tekin et al, 2002;Meyer et al, 2004;Aoki et al, 2005;Gripp, 2005;Ferrari et al, 2007;Moschovi et al, 2007;Trahair et al, 2007;Li and Fraumeni, 1969a, b) and a larger prevalence of congenital malformations (Ruymann et al, 1988) among affected children suggest that genetic predisposition may be important. However, collectively these factors account for only a small fraction of cases.…”

Could an osteoinductor result in degeneration of a neurofibroma in NF1?

“…NF1 is characterised by neurofibromas with possible degeneration and conversion to a sarcoma [7][8][9][10][11][12]. His mother had the same disease and died before her 30th birthday from a malign degeneration of a neurofibroma of the forearm.…”