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MLL tandem duplication and multiple splicing in adult acute myeloid leukemia with normal karyotype.

Yu, M; Honoki, K; Andersen, J; Paietta, E; Nam, DK; Yunis, JJ
Leukemia, 10(5):774-780, 1996
Journal Title
Rearrangement of the MLL (myeloid-lymphoid or mixed-lineage leukemia) gene through a reciprocal chromosomal translocation is found in 5% of adult acute myeloid (AML) and 10% of pediatric acute lymphoid (ALL) leukemia. More than 25 different reciprocal chromosomal translocations, with an 11q23 breakpoint, fuse the MLL gene (also named ALL-1, HRX and Htrx1) to a second partner gene. These leukemias have poor prognosis and frequently have a monocytic, lymphoid or biphenotypic (myeloid and lymphoid) antigen expression in blast cells. Approximately 20-30% of patients diagnosed as having adult de novo, AML have normal chromosomes by metaphase analysis and the majority of these patients have good prognosis. With the use of reverse transcriptase-polymerase chain reaction (RT-PCR) technique and Southern blot analysis, we found that seven of 34 such patients (21%) had a tandem partial duplication of exons 2 to 6 or 2 to 8 of the MLL gene. These seven patients showed a median survival of 2.7 months, compared to a 6.8 months median survival for all other patients in the study. If confirmed on a large series of patients, our findings may help differentiate AML with normal karyotype and poor prognosis from those with normal karyotype and a more favorable prognosis.
MeSH terms
Acute DiseaseAdultBase SequenceBone Marrow/pathologyChromosomes, Human, Pair 11/geneticsDNA-Binding Proteins/*geneticsExons/geneticsFemaleHumansKaryotypingLeukemia, Myeloid/*genetics/mortality/pathologyMaleMiddle AgedMolecular Sequence Data*Multigene FamilyMyeloid-Lymphoid Leukemia ProteinNeoplasm Proteins/*geneticsPolymerase Chain ReactionPrognosis*Proto-Oncogenes*RNA SplicingSurvival Rate*Transcription FactorsTranslocation, Genetic/genetics
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Journal Papers > School of Medicine / Graduate School of Medicine > Hematology-Oncology
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