The factor V Leiden mutation in children with cancer and thrombosis

Maria T. Sifontes, Rachelle Nuss, Stephen P. Hunger, Judith Wilimas, Linda J. Jacobson, Marilyn J. Manco-Johnson

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66 Scopus citations


Thromboembolic phenomena, frequently observed in children with cancer who are undergoing chemotherapy, can cause significant morbidity and, less frequently, mortality. Many contributory factors have been identified. Whether the recently identified and most common coagulation defect predisposing to thrombosis, factor V Leiden, is associated with thrombosis in this setting, has not been explored. The current study was undertaken to determine the prevalence of the factor V Leiden mutation in children with cancer who developed thromboembolic phenomena as compared to those with cancer who did not. Genomic DNA was amplified using the polymerase chain reaction (PCR), followed by digestion of the amplification product with the restriction enzyme MnlI. The digested PCR products were then size-fractionated to classify samples as heterozygous, homozygous or normal for the factor V Leiden mutation. 67 children with cancer were evaluated for the factor V Leiden mutation. One of 32 children with cancer and thrombosis, and none of 35 who had not-experienced thrombotic problems, was found heterozygous for this mutation. We conclude that the factor V Leiden mutation does not play a significant role in the overall incidence of thromboses that occur in children with cancer.

Original languageEnglish
Pages (from-to)484-489
Number of pages6
JournalBritish Journal of Haematology
Issue number3
StatePublished - 1997
Externally publishedYes


  • Blood coagulation disorders
  • Childhood cancer
  • Factor V Leiden
  • Thrombosis


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