Article (Scientific journals)
Osteopetrosis mimicking juvenile myelomonocytic leukemia.
Hoyoux, Claire; DRESSE, Marie-Françoise; FORGET, Patricia et al.
2014In Pediatrics International, 56 (5), p. 779-82
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Keywords :
juvenile myelomonocytic leukemia; osteopetrosis
Abstract :
[en] A 5-month-old boy developed splenomegaly, anemia, thrombocytopenia with elevated white cells, monocytosis and immature granulocytes in the peripheral blood. Bone marrow showed dysplasia without blastosis. Increased colony-forming unit-granulocyte-macrophage was found in the peripheral blood, mimicking granulocyte-macrophage colony-stimulating factor hypersensitivity. These findings fulfilled the diagnosis criteria for juvenile myelomonocytic leukemia (JMML), but no mutations in the CBL, NRAS, KRAS, or PTPN11 genes were detected. In addition to these findings severe hypogammaglobulinemia and elevated alkaline phosphatase were present. Bone X-ray showed dense and radiopaque bones with a bone-in-bone appearance characteristic of infantile malignant osteopetrosis (IMO). Genetic mutation in T-cell, immune regulator 1 (TCIRG1) was identified, confirming the diagnosis of IMO. Careful differential diagnosis including osteopetrosis, is therefore recommended in patients with clinical features and hematologic findings consistent with JMML.
Disciplines :
Hematology
Oncology
Pediatrics
Author, co-author :
Hoyoux, Claire ;  Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques
DRESSE, Marie-Françoise ;  Centre Hospitalier Universitaire de Liège - CHU > Service de pédiatrie (CHR)
FORGET, Patricia ;  Centre Hospitalier Universitaire de Liège - CHU > Service de pédiatrie (CHR)
Piette, Caroline ;  Université de Liège > Département des sciences cliniques > Pédiatrie
Rausin, Leon
Villa, Anna
Gothot, André ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biologie de la coagulation et de l'hémostase
FLORKIN, Benoît ;  Centre Hospitalier Universitaire de Liège - CHU > Service de pédiatrie
Language :
English
Title :
Osteopetrosis mimicking juvenile myelomonocytic leukemia.
Publication date :
2014
Journal title :
Pediatrics International
ISSN :
1328-8067
eISSN :
1442-200X
Publisher :
Blackwell, Oxford, United Kingdom
Volume :
56
Issue :
5
Pages :
779-82
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 20 January 2015

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