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

• Published in: Cancer genetics and cytogenetics Vol. 187; no. 1; pp. 50 - 53
• Main Authors: Park, Tae Sung, Lee, Seung Tae, Song, Jaewoo, Lee, Kyung-A, Lee, Sang-Guk, Kim, Juwon, Suh, Borum, Kim, Sue Jung, Lee, Jong-Han, Park, Rojin, Choi, Jong Rak
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2008
• Subjects: Bone Marrow - pathology; Chromosome Aberrations - classification; Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 6; Female; Flow Cytometry; Gene Rearrangement; Hematology, Oncology and Palliative Medicine; Histone-Lysine N-Methyltransferase; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - pathology; Medical Education; Middle Aged; Myeloid-Lymphoid Leukemia Protein - genetics; Translocation, Genetic
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/j.cancergencyto.2008.07.012

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∼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.