Association of childhood rhabdomyosarcoma with neurofibromatosis type I and birth defects

Ping Yang, S. Grufferman, M. J. Khoury, A. G. Schwartz, J. Kowalski, F. B. Ruymann, H. M. Maurer

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma whose cause is 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 of drugs around the time of conception. We present results from a national, case control study of 249 RMS cases (170 males and 79 females) and 302 controls (196 males and 106 females). The cases, aged 0-20 years at diagnosis, were identified via the Intergroup RMS Study-III during 19821988. Controls were selected by random digit telephone dialing. As a supplement to the original study, information on genetic diseases and birth defects (BD) was collected from the subjects' parents by telephone interview. Fifty-six (22.5%) cases and 55 (18.2%) controls were reported to have genetic diseases or BD (odds ratio [OR] = 1.30,95% confidence interval [CI] = 0.85-2.02, P = .21). The case group had a significantly higher frequency of neurofibromatosis type I (NFI) than did the control group, i.e., five cases (2.0%) had NFI vs. zero controls (P = .02). The case group also had a higher frequency of major BDs than did the control group (6.0% vs. 2.6%, OR = 2.36, 95% CI = 0.92-6.52, P = .05). However, this excess was only observed in males (7.6% vs. 2.6%, OR = 3.16, 95% CI = 1.02- 10.41, P = .02). Among the 15 cases having both RMS and major BDs, six (40.0%) had both conditions in the same regional anatomic site: Two (13.3%) had both in the extremities, two (13.3%) in the genitourinary system, and two in the head and neck. These findings suggest that common genetic mechanisms or in utero exposures may be involved in the development of many childhood tumors and congenital abnormalities.

Original languageEnglish (US)
Pages (from-to)467-474
Number of pages8
JournalGenetic Epidemiology
Volume12
Issue number5
DOIs
StatePublished - 1995
Externally publishedYes

Fingerprint

Neurofibromatosis 1
Rhabdomyosarcoma
Inborn Genetic Diseases
Odds Ratio
Confidence Intervals
Urogenital System
Genetic Translocation
Control Groups
Telephone
Sarcoma
Case-Control Studies
Neck
Extremities
Head
Interviews
Mutation
Pharmaceutical Preparations
Genes
Neoplasms

Keywords

  • congenital abnormalities
  • genetic epidemiology
  • neurofibromatosis
  • rhabdomyosarcoma

ASJC Scopus subject areas

  • Genetics(clinical)
  • Epidemiology

Cite this

Yang, P., Grufferman, S., Khoury, M. J., Schwartz, A. G., Kowalski, J., Ruymann, F. B., & Maurer, H. M. (1995). Association of childhood rhabdomyosarcoma with neurofibromatosis type I and birth defects. Genetic Epidemiology, 12(5), 467-474. https://doi.org/10.1002/gepi.1370120504

Association of childhood rhabdomyosarcoma with neurofibromatosis type I and birth defects. / Yang, Ping; Grufferman, S.; Khoury, M. J.; Schwartz, A. G.; Kowalski, J.; Ruymann, F. B.; Maurer, H. M.

In: Genetic Epidemiology, Vol. 12, No. 5, 1995, p. 467-474.

Research output: Contribution to journalArticle

Yang, P, Grufferman, S, Khoury, MJ, Schwartz, AG, Kowalski, J, Ruymann, FB & Maurer, HM 1995, 'Association of childhood rhabdomyosarcoma with neurofibromatosis type I and birth defects', Genetic Epidemiology, vol. 12, no. 5, pp. 467-474. https://doi.org/10.1002/gepi.1370120504
Yang, Ping ; Grufferman, S. ; Khoury, M. J. ; Schwartz, A. G. ; Kowalski, J. ; Ruymann, F. B. ; Maurer, H. M. / Association of childhood rhabdomyosarcoma with neurofibromatosis type I and birth defects. In: Genetic Epidemiology. 1995 ; Vol. 12, No. 5. pp. 467-474.
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