BACKGROUND MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia(AML),which predicts poor prognosis and is important in clinical diagnosis.MLL rearrangement involves many chromosomes,among w...BACKGROUND MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia(AML),which predicts poor prognosis and is important in clinical diagnosis.MLL rearrangement involves many chromosomes,among which,t(4;11)translocation is rare in AML.The present case was t(4;11)AML,accompanied by a hyperdiploid karyotype.Such cases have not been reported previously.CASE SUMMARY An adult male with self-reported symptoms of fatigue,febrility and hyperleukocytosis was diagnosed with AML by morphology and confirmed by immunophenotype analysis.Uncommonly,chromosomal and fluorescence in situ hybridization(FISH)analysis showed a hyperdiploid karyotype with t(4;11)translocation and MLL rearrangement,and a negative MLL–AF4 fusion gene result.The patient died of respiratory and circulatory failure 5 days after diagnosis.CONCLUSION t(4;11)AML with hyperdiploid karyotype has not been reported.In this case,t(4;11)was only detected by karyotype analysis and FISH,suggesting their importance in MLL rearrangement detection.展开更多
文摘BACKGROUND MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia(AML),which predicts poor prognosis and is important in clinical diagnosis.MLL rearrangement involves many chromosomes,among which,t(4;11)translocation is rare in AML.The present case was t(4;11)AML,accompanied by a hyperdiploid karyotype.Such cases have not been reported previously.CASE SUMMARY An adult male with self-reported symptoms of fatigue,febrility and hyperleukocytosis was diagnosed with AML by morphology and confirmed by immunophenotype analysis.Uncommonly,chromosomal and fluorescence in situ hybridization(FISH)analysis showed a hyperdiploid karyotype with t(4;11)translocation and MLL rearrangement,and a negative MLL–AF4 fusion gene result.The patient died of respiratory and circulatory failure 5 days after diagnosis.CONCLUSION t(4;11)AML with hyperdiploid karyotype has not been reported.In this case,t(4;11)was only detected by karyotype analysis and FISH,suggesting their importance in MLL rearrangement detection.
