Acute Monocytic Leukemia with t(11;17)(q23;q21) Involving a Rearrangement of Mixed Lineage Leukemia Gene

Kyong-Eun Kim; Sung-Hyun Kim; Jin-Yeong Han

doi:10.3343/kjlm.2006.26.5.329

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Kim, Kim, and Han: Acute Monocytic Leukemia with t(11;17)(q23;q21) Involving a Rearrangement of Mixed Lineage Leukemia Gene

Original Article

Korean J Leg Med 2006;26(5):329-333.

Published online: 10 February 2006

DOI: https://doi.org/10.3343/kjlm.2006.26.5.329

Acute Monocytic Leukemia with t(11;17)(q23;q21) Involving a Rearrangement of Mixed Lineage Leukemia Gene

Kyong-Eun Kim, M.D.¹, Sung-Hyun Kim, M.D.², Jin-Yeong Han, M.D.¹

¹Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea

²Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea

Received 3 May 2006 Revised 20 June 2006 Accepted 17 August 2006

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

A case of acute monocytic leukemia (AMoL) by French-American-British (FAB) classification in a 63-year-old male showed the abnormal karyotype 46,XY,t(11;17)(q23;q21), previously reported as a variant translocation in acute promyelocytic leukemia (APL). Fluorescence in situ hybridization (FISH) analysis identified a mixed lineage leukemia (MLL) gene rearrangement, but not visible disruptions of promyelocytic leukemia (PML) or retinoic acid receptor alpha (RARA) genes. We suggest that a certain gene proximal to RARA was rearranged in this case onto a gene close to MLL on chromosome 11q. Now, a few cases of AMoL with a similar translocation have been reported in the literature, and these cases emphasize the importance of cytogenetic and FISH studies in addition to morphology, cytochemistry, and immunophenotype in classifying acute myeloid leukemia (AML).

Keywords: t(11;17)(q23;q21), Mixed lineage leukemia, Acute monocytic leukemia

References

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Fig. 1.

Peripheral blood smear (A) showing a blast. Bone marrow smear (B) revealed monocytoid blasts (Wright-Giemsa stain, × 1,000) and those cells were positive (brownish black) to alphanaphthyl butyrate esterase stain (C) (×1,000). Bone marrow biopsy(D) showing a slightly hypercellular marrow mostly infiltrated with leukemic blasts (H & E stain, ×200).

Fig. 2.

Giemsa-banded karyotype showing a 46,XY,t(11;17)(q23;q21). The arrows indicate t(11;17)(q23;21).

Fig. 3.

FISH results. (A) Hybridization of the LSI PML/RARA dual color dual fusion probe on metaphase showing no fusion signals. (B) Hybridization of the LSI MLL dual color break apart rearrangement probe on metaphase. The normal chromosome 11 showed orange/green fusion signal. The derived chromosomes 11 and 17 were indicated by separation of a green signal and a orange signal, respectively. (C) FISH with RARA dual color break apart rearrangement probe on metaphase. Two orange/green fusion signals were observed on normal chromosome 17 and the der (11), respectively.

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