Association of childhood rhabdomyosarcoma with neurofibromatosis type i and birth defects

摘要: Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma whose cause largely unknown. Reported risk factors include genetic alterations (e.g., p53 mutations, a defective gene at 11p15.5, or specific chromosomal translocation of t(2:13)), and parents' use drugs around the time conception. We present results from national, case-control study 249 RMS cases (170 males 79 females) 302 controls (196 106 females). The cases, aged 0–20 years diagnosis, were identified via Intergroup Study-III during 1982–1988. Controls selected by random digit telephone dialing. As supplement to original study, information on diseases birth defects (BD) was collected subjects' parents interview. Fifty-six (22.5%) 55 (18.2%) reported have BD (odds ratio [OR] = 1.30,95% confidence interval [CI] 0.85–2.02, P .21). case group had significantly higher frequency neurofibromatosis type I (NF1) than did control group, i.e., five (2.0%) NF1 vs. zero (P .02). also major BDs (6.0% 2.6%, OR 2.36, 95% CI 0.92–6.52, .05). However, this excess only observed in (7.6% 3.16, 1.02–10.41, Among 15 having both BDs, six (40.0%) conditions same regional anatomic site: Two (13.3%) extremities, two genitourinary system, head neck. These findings suggest that common mechanisms utero exposures may be invilved development many childhood tumors congenital abnormalities. ©1995 Wiley-Liss, Inc.