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Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia |
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| Authors: | Margarita Raygada PhD Diane C. Arthur MD Alan S. Wayne MD Owen M. Rennert MD Jeffrey A. Toretsky MD Constantine A. Stratakis MD |
| Affiliation: | 1. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, Maryland;2. Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland;3. National Cancer Institute, Pediatric Oncology Branch, 10‐CRC Hatfield Clinical Research Center, Bethesda, Maryland;4. Departments of Oncology and Pediatrics, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia;5. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section of Endocrinology and Genetics, 10‐CRC Hatfield Clinical Research Center, Bethesda, Maryland |
| 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. |
| Keywords: | café ‐au‐lait spots hepatomegaly juvenile myelomonocytic leukemia juvenile xanthogranuloma neurofibromatosis 1 |