The evolution of juvenile myelomonocytic leukemia in a female patient with paternally inherited neurofibromatosis type 1

J Pediatr Hematol Oncol. 2003 Feb;25(2):145-7. doi: 10.1097/00043426-200302000-00012.


The most common myeloid malignancy seen in children with neurofibromatosis type 1 (NF-1) is juvenile myelomonocytic leukemia (JMML), a myeloproliferative disease. The vast majority of these children have inherited the neurocutaneous disease from an affected mother; boys are more often affected than girls. We present the rare finding of a 7-year-old girl with NF-1 who developed JMML. She inherited her NF-1 from the father. At the time of her initial presentation, clonogenic assays of bone marrow mononuclear cells did not show the spontaneous growth of granulocyte-macrophage colony-forming units or hypersensitivity to granulocyte-macrophage colony-stimulating factor that is characteristic of this disorder. After 1 month, repeat evaluations of the patient's clinical and laboratory test results became fully consistent with those for a diagnosis of JMML. This illustrates the stepwise evolution of this myeloproliferative disorder in NF-1 and the importance of close follow-up and reassessment of these patients. Our case is only the second report of JMML in a girl who inherited NF-1 from her father.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow / pathology*
  • Child
  • Female
  • Humans
  • Leukemia, Myelomonocytic, Chronic / complications*
  • Leukemia, Myelomonocytic, Chronic / diagnosis*
  • Leukemia, Myelomonocytic, Chronic / pathology
  • Myelodysplastic Syndromes / complications
  • Myeloproliferative Disorders / complications
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology