Association of childhood rhabdomyosarcoma with neurofibromatosis type i and birth defects

  title={Association of childhood rhabdomyosarcoma with neurofibromatosis type i and birth defects},
  author={P. Y. Yang and Seymour Grufferman and M J Khoury and A Schwartz and Joseph Kowalski and Frederick B. Ruymann and Harold M. Maurer},
  journal={Genetic Epidemiology},
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… 

Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database

In the largest analysis of its kind, the results indicate an increased risk of RMS in children who have a first‐degree relative with cancer, and among those whose relatives were diagnosed with cancer at <30 years of age.

Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group.

It is demonstrated that genetic risk of RMS results from germline predisposition variants associated with a wide spectrum of cancer-susceptibility syndromes, which is in contrast to current genetic testing recommendations based on early age at diagnosis.

Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome.

There could be a higher risk of malignancy in patients with syndromes in the Noonan phenotype category, and other reports suggest there could be an increase in the number of patients diagnosed with CFC-s with rhabdomyosarcoma.

Maternal and birth characteristics and childhood rhabdomyosarcoma: a report from the Children’s Oncology Group

Overall, it is found little evidence that these maternal and birth characteristics are strongly associated with childhood rhabdomyosarcoma, and statistically significant, was abnormal vaginal bleeding during pregnancy.

Pediatric Rhabdomyosarcoma: Epidemiology and Genetic Susceptibility

Examination of epidemiological reports of RMS incidence in terms of several factors, including age at diagnosis, biological sex, and geographic location reveals the role of parental exposures, birth and perinatal characteristics, and childhood exposures in RMS.

Second Malignant Neoplasms in Patients With Rhabdomyosarcoma

The multivariate analysis indicated that RMS in the limbs and earlier diagnosis time were independent risk factors for the development of SMN, which is helpful for the personalized screening of high-risk patients with RMS.

Second Malignant Neoplasms in Patients with Rhabdomyosarcoma: A US Population-Based Analysis

The multivariate analysis indicated that RMS in the limbs and earlier diagnosis time were independent risk factors for the development of SMN, which is helpful for the personalized screening of high-risk patients with RMS.

Allergies, atopy, immune‐related factors and childhood rhabdomyosarcoma: A report from the children's oncology group

This is the first study indicating that atopic exposures may be protective against childhood RMS, suggesting additional studies are needed to evaluate the immune system's role in the development of this tumor.


This Primer describes the current understanding of RMS epidemiology, disease susceptibility factors, disease mechanisms and elements of clinical care, including diagnostics, risk-based care of newly diagnosed and relapsed disease and the prevention and management of late effects in survivors.



Neurofibromatosis and childhood tumors

It is concluded that clinically significant tumors in children with NF, not all of which are histologically malignant, are not rare and there is no contraindication to aggressive therapy.

Neurofibromatosis type I and malignancy: review of 32 pediatric cases treated at a single institution.

Thirty-two cases of neurofibromatosis Type I (NF1) were identified among 6,678 pediatric cancer patients treated at St. Jude Children's Research Hospital over a 29-year period, reflecting the molecular and cytogenetic abnormalities that can be present in NF1 and the variety of tumors that may result in these patients.

Second malignant neoplasms in children treated for rhabdomyosarcoma. Intergroup Rhabdomyosarcoma Study Committee.

  • R. HeynV. Haeberlen H. Maurer
  • Medicine
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 1993
The results of this study suggest that genetic abnormalities play a prominent role in the development of an SMN after therapy for a primary RMS and Chemotherapy with an alkylating agent and radiotherapy play significant roles in theDevelopment of anSMN compared with patients who received only one of these therapeutic modalities.

Neurofibromatosis in children with soft tissue sarcoma.

It is suggested that NF may be more common in children with soft tissue sarcoma than previously thought and that clinicians should be alert for signs and symptoms of NF in such children and their families.

Cancer in the families of children with soft tissue sarcoma

It is concluded that a marked proportion of childhood soft tissue sarcoma has a genetic basis and a subgroup of children whose relatives are at high risk of early onset cancer is identified.

Congenital anomalies associated with rhabdomyosarcoma: an autopsy study of 115 cases. A report from the Intergroup Rhabdomyosarcoma Study Committee (representing the Children's Cancer Study Group, the Pediatric Oncology Group, the United Kingdom Children's Cancer Study Group, and the Pediatric Inter

Extensive epidemiologic studies now in progress in patients with rhabdomyosarcoma should provide the incidence of congenital anomalies and potential linkage with prenatal events and support a different gene locus operative on chromosome 11 for individuals with r Habdomyosa compared to Wilms' tumor.

Molecular differential pathology of rhabdomyosarcoma

The underlying simplicity of the strategy used to define rhabdomyosarcoma subtypes with molecular markers suggests a model by which tumors can be unequivocally identified, which may apply equally well to other human solid tumors.

Incidence, types, and management of cancer in patients with neurofibromatosis.

The authors discuss the dysplastic and malignant features associated with NF and the concept of NF as a "neurocristopathy".