Korean J Lab Med.  2011 Apr;31(2):127-129. 10.3343/kjlm.2011.31.2.127.

Three-way Translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a Pediatric Case of Acute Myeloid Leukemia

• Jun KR
• Lee JN
• Park JA
• Kim HR
• Shin JH
• Oh SH
• Lee JY
• Song SA

• KMID: 1094354
• DOI: http://doi.org/10.3343/kjlm.2011.31.2.127

Abstract

The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever. A diagnosis of AML was made on the basis of the morphological evaluation and immunophenotyping of bone marrow specimens. Flow cytometric immunophenotyping showed blasts positive for myeloid lineage markers and aberrant CD19 expression. Karyotypic analysis showed 46,XX,t(1;9;11)(p34.2;p22;q23) in 19 of the 20 cells analyzed. This abnormality was involved in MLL/MLLT3 rearrangement, which was confirmed by qualitative multiplex reverse transcription-PCR and interphase FISH. She achieved morphological and cytogenetic remission after 1 month of chemotherapy and remained event-free for 6 months. Four cases of t(1;9;11)(v;p22;q23) have been reported previously in a series that included cases with other 11q23 abnormalities, making it difficult to determine the distinctive clinical features associated with this abnormality. To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.

Keyword

Genetic translocation; Human MLL-MLLT3 fusion protein; Chromosome aberrations; Acute myeloid leukemia

MeSH Terms

Antigens, CD19/metabolism
Bone Marrow Cells/pathology
Child, Preschool
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 9
Female
Humans
Immunophenotyping
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia, Myeloid, Acute/*diagnosis/genetics/immunology
Myeloid-Lymphoid Leukemia Protein/*genetics
Nuclear Proteins/*genetics
*Translocation, Genetic

Figure

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  Fig. 1 Morphology of leukemic cells at diagnosis. In bone marrow aspirate, 85.6% of nucleated cells were blasts, which were small- to medium-sized cells with coarse nuclear chromatin, distinct nucleoli, and small amounts of basophilic cytoplasm.

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  Fig. 2 G-banded bone marrow karyogram at diagnosis showing 46,XX,t(1;9;11)(p34.2;p22;q23).

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