title: MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities.
abstract: We report a rare case of acute myeloid leukemia (AML) with t(6;11)(q15;q23) in a 50-year-old female showing a poor prognosis. Bone marrow biopsy revealed markedly hypercellular marrow with infiltrates of myeloblasts, consistent with AML-M2 morphology. The karyotype of this patient was 46,XX,t(6;11)(q15;q23) in all analyzed cells, and the results of fluorescence in situ hybridization (FISH) and multi-color FISH analysis confirmed this unique MLL rearrangement as a sole abnormality. To our knowledge, t(6;11)(q13 approximately q15;q23) is the most rare type of MLL rearrangement involving the long arm of chromosome 6. Only two cases with t(6;11)(q13;q23) and three cases with t(6;11)(q15;q23) have been reported, but detailed clinical or laboratory data were not available. From this report, it is apparent that in a cytogenetic laboratory, the accurate detection of a rare type of MLL rearrangement is very important in the differential diagnosis, prompt treatment, and prediction of prognosis of leukemias.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea.
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Seung Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Sang-Guk
authors.initials: SG
authors.lastname: Lee
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.forename: Borum
authors.initials: B
authors.lastname: Suh
authors.forename: Sue Jung
authors.initials: SJ
authors.lastname: Kim
authors.forename: Jong-Han
authors.initials: JH
authors.lastname: Lee
authors.forename: Rojin
authors.initials: R
authors.lastname: Park
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations / Q000145:classification*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005434:Flow Cytometry; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase