Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia

Authors

  • Margarita Raygada PhD,

    Corresponding author
    1. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, Maryland
    • Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, 10 Center Dr MSC 1831Room # 10N256, Bethesda, MD 20892-1831.
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  • Diane C. Arthur MD,

    1. Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland
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  • Alan S. Wayne MD,

    1. National Cancer Institute, Pediatric Oncology Branch, 10-CRC Hatfield Clinical Research Center, Bethesda, Maryland
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  • Owen M. Rennert MD,

    1. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, Maryland
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  • Jeffrey A. Toretsky MD,

    1. Departments of Oncology and Pediatrics, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia
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  • Constantine A. Stratakis MD

    1. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section of Endocrinology and Genetics, 10-CRC Hatfield Clinical Research Center, Bethesda, Maryland
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Abstract

The association of neurofibromatosis 1 (NF1), juvenile xanthogranulomas (JXG), and juvenile myelomonocytic leukemia (JMML) has been previously reported. We describe herein this triad in a Caucasian male infant with a pathogenic mutation in the NF1 gene (neurofibromin). The clinical course from initial presentation to final diagnosis is detailed; the physical features and hematologic characteristics are discussed. The patient underwent bone marrow transplantation and is currently in remission. Children with concurrent cutaneous café-au-lait and JXG lesions should be evaluated and monitored closely for the possible development of JMML. Pediatr Blood Cancer 2010; 54:173–175. © 2009 Wiley-Liss, Inc.

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