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

Affiliations
  • 1Department of Laboratory Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea. dr.junkr@gmail.com
  • 2Department of Pediatrics, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.
  • 3Department of Laboratory Medicine, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.

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

  • 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.

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


Reference

1. Sandoval C, Head DR, Mirro J Jr, Behm FG, Ayers GD, Raimondi SC. Translocation t(9;11)(p21;q23) in pediatric de novo and secondary acute myeloblastic leukemia. Leukemia. 1992; 6:513–519. PMID: 1602790.
2. Joh T, Kagami Y, Yamamoto K, Segawa T, Takizawa J, Takahashi T, et al. Identification of MLL and chimeric MLL gene products involved in 11q23 translocation and possible mechanisms of leukemogenesis by MLL truncation. Oncogene. 1996; 13:1945–1953. PMID: 8934541.
3. Swansbury GJ, Slater R, Bain BJ, Moorman AV, Secker-Walker LM. Hematological malignancies with t(9;11)(p21-22;q23)--a laboratory and clinical study of 125 cases. European 11q23 Workshop participants. Leukemia. 1998; 12:792–800. PMID: 9593283.
4. Köller U, Haas OA, Ludwig WD, Bartram CR, Harbott J, Panzer-Grümayer R, et al. Phenotypic and genotypic heterogeneity in infant acute leukemia. II. Acute nonlymphoblastic leukemia. Leukemia. 1989; 3:708–714. PMID: 2779287.
5. Roumier C, Eclache V, Imbert M, Davi F, MacIntyre E, Garand R, et al. M0 AML, clinical and biologic features of the disease, including AML1 gene mutations: a report of 59 cases by the Groupe Français d'Hématologie Cellulaire (GFHC) and the Groupe Francais de Cytogenetique Hematologique (GFCH). Blood. 2003; 101:1277–1283. PMID: 12393381.
6. Mrózek K, Heinonen K, Lawrence D, Carroll AJ, Koduru PR, Rao KW, et al. Adult patients with de novo acute myeloid leukemia and t(9;11)(p22;q23) have a superior outcome to patients with other translocations involving band 11q23: a cancer and leukemia group B study. Blood. 1997; 90:4532–4538. PMID: 9373264.
Full Text Links
  • KJLM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr