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Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia
Author(s) -
Raygada Margarita,
Arthur Diane C.,
Wayne Alan S.,
Rennert Owen M.,
Toretsky Jeffrey A.,
Stratakis Constantine A.
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22297
Subject(s) - juvenile myelomonocytic leukemia , juvenile xanthogranuloma , neurofibromatosis , medicine , neurofibromin 1 , blood cancer , bone marrow transplantation , leukemia , café au lait spot , pathology , juvenile , bone marrow , dermatology , cancer , immunology , haematopoiesis , genetics , stem cell , histiocyte , biology
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.