Title

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); Children

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