What is the likelihood of juvenile myelomonocytic leukemia (JMML) in patients with neurofibromatosis type 1 (NF1) and juvenile xanthogranuloma (JXG)?

Updated: Feb 08, 2019
  • Author: Bhupendra C K Patel, MD, FRCS; Chief Editor: Michael Taravella, MD  more...
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Answer

When JXG occurs with NF1 and JMML, the term "triple association" has been used. Individuals with NF1 and JXG have a 20- to 30- fold higher risk for JMML than individuals with NF1 who do not have JXG. Therefore, patients with JXG and NF1 should be screened for the development of JMML, a rare myelodysplastic and myeloproliferative disorder. Affected children with JMML display lymphadenopathy, anemia, thrombocytopenia, leukocytosis, and hepatosplenomegaly.

With proper diagnosis, enucleation can be avoided. In the past, many globes were enucleated, as the lesions were thought to be malignancies.


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