Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas

J Pediatr Hematol Oncol. 2004 Sep;26(9):591-5. doi: 10.1097/01.mph.0000135282.39550.99.


An association exists among neurofibromatosis 1 (NF1), juvenile xanthogranulomas (JXGs), and juvenile myelomonocytic leukemia (JMML). The authors describe a patient with the triple association of JXG, NF1, and JMML initially presenting with features of hemophagocytic lymphohistiocytosis (HLH). An 18-month old boy had multiple cutaneous and gastrointestinal JXG and NF1. At 3 years of age he developed anemia, thrombocytopenia, and hepatosplenomegaly. A bone marrow biopsy revealed features of HLH. Despite chemotherapy, he went on to develop JMML, which proved fatal.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow / pathology
  • Fatal Outcome
  • Histiocytosis, Non-Langerhans-Cell / drug therapy
  • Histiocytosis, Non-Langerhans-Cell / pathology*
  • Humans
  • Infant
  • Leukemia, Myelomonocytic, Chronic / diagnosis*
  • Leukemia, Myelomonocytic, Chronic / drug therapy
  • Male
  • Neurofibromatosis 1 / diagnosis*
  • Xanthogranuloma, Juvenile / diagnosis*