Juvenile myelomonocytic leukemia with t(3;5)(q25;q35), Auer rods and marked myelodysplasia.
Document Type
Article
Publication Date
6-1-2018
Identifier
DOI: 10.1016/j.prp.2017.11.024
Abstract
Juvenile myelomonocytic leukemia (JMML) is a rare aggressive childhood leukemia characterized by an excess proliferation of cells of granulocytic and monocytic lineages. The WHO classifies JMML with the myelodysplastic/myeloproliferative neoplasms. Myelodysplasia in JMML is usually minimal to mild. Auer rods have never been reported in JMML. We present a 2-year-old boy with splenomegaly, leukocytosis, thrombocytopenia, anemia, and excess myeloblasts with easily seen Auer rods, and marked dysgranulopoiesis and dyserythropoiesis. Conventional cytogenetic analysis showed a sole abnormality of t(3;5)(q25;q35). Microarray analysis showed a terminal 21 Mb region of copy-neutral loss of heterozygosity on 19q. Disease-related somatic NRAS mutation was detected. This case represents an unusual JMML with Auer rods and marked myelodysplasia. These unusual histopathologic features may be related to the t(3;5)(q25;q35). A t(3;5) with variable breakpoints has been reported in a small proportion of acute myeloid leukemias and myelodysplastic syndromes. To our knowledge, this is the first JMML case reported with this translocation.
Journal Title
Pathology, research and practice
Volume
214
Issue
6
First Page
919
Last Page
923
MeSH Keywords
Child, Preschool; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 5; Humans; Leukemia, Myelomonocytic, Juvenile; Male; Translocation, Genetic
Keywords
19q LOH; Auer rods; Juvenile myelomonocytic leukemia; Myelodysplasia; t(3; 5)
Recommended Citation
Li W, Cooley LD, August K. Juvenile myelomonocytic leukemia with t(3;5)(q25;q35), Auer rods and marked myelodysplasia. Pathol Res Pract. 2018;214(6):919-923. doi:10.1016/j.prp.2017.11.024
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