title: Three-way translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a pediatric case of acute myeloid leukemia.
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.
authors.affiliation: Department of Laboratory Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea. dr.junkr@gmail.com
authors.forename: Kyung Ran
authors.initials: KR
authors.lastname: Jun
authors.forename: Jeong Nyeo
authors.initials: JN
authors.lastname: Lee
authors.forename: Jeong A
authors.initials: JA
authors.lastname: Park
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Kim
authors.forename: Jeong Hwan
authors.initials: JH
authors.lastname: Shin
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Oh
authors.forename: Ja Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Sae Am
authors.initials: SA
authors.lastname: Song
mesh_terms: D018941:Antigens, CD19 / Q000378:metabolism; D001854:Bone Marrow Cells / Q000473:pathology; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D005260:Female; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D018941:Antigens, CD19; C497422:KMT2A protein, human; C489901:MLLT3 protein, human; D009687:Nuclear Proteins; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase