We describe two cases of acute myelocytic leukemia (AML), classified as M4 and M1 in the French-American-British classification, with unbalanced translocations der(16)t(11;16)(q23;p13) and der(18)t(11;18) (q22;p11.2), respectively. Molecular studies using Southern blot and reverse transcriptase-polymerase chain reaction showed an MLL rearrangement due to an internal duplication of the gene in both cases. Fluorescence in situ hybridization disclosed the presence of an extra copy of the MLL gene on 16p13 and 18p11.2, respectively, as a result of the partial trisomy of chromosome 11q. Our two cases clearly show that tandem duplication of the MLL gene may occur in AML with a partial 11q trisomy. Thus, systematic screening of this molecular defect should be performed in patients with unbalanced translocations involving 11q22 approximately q23-->qter.

Aventín, A., La Starza, R., Casas, S., Nomdedéu, J., Queipo de Llano, M., Cimino, G., et al. (2003). MLL tandem duplication in two cases of acute myelocytic leukemia with unbalanced translocations: der(16)t(11;16)(q23;p13) and der(18)t(11;18)(q22;p11.2). CANCER GENETICS AND CYTOGENETICS, 142(1), 8-12.

MLL tandem duplication in two cases of acute myelocytic leukemia with unbalanced translocations: der(16)t(11;16)(q23;p13) and der(18)t(11;18)(q22;p11.2)

LO COCO, FRANCESCO;
2003-04-01

Abstract

We describe two cases of acute myelocytic leukemia (AML), classified as M4 and M1 in the French-American-British classification, with unbalanced translocations der(16)t(11;16)(q23;p13) and der(18)t(11;18) (q22;p11.2), respectively. Molecular studies using Southern blot and reverse transcriptase-polymerase chain reaction showed an MLL rearrangement due to an internal duplication of the gene in both cases. Fluorescence in situ hybridization disclosed the presence of an extra copy of the MLL gene on 16p13 and 18p11.2, respectively, as a result of the partial trisomy of chromosome 11q. Our two cases clearly show that tandem duplication of the MLL gene may occur in AML with a partial 11q trisomy. Thus, systematic screening of this molecular defect should be performed in patients with unbalanced translocations involving 11q22 approximately q23-->qter.
1-apr-2003
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - MALATTIE DEL SANGUE
English
Adult; Blotting, Southern; Cytogenetic Analysis; DNA-Binding Proteins; Female; Histone-Lysine N-Methyltransferase; Humans; In Situ Hybridization, Fluorescence; Leukemia, Myeloid, Acute; Male; Middle Aged; Myeloid-Lymphoid Leukemia Protein; Reverse Transcriptase Polymerase Chain Reaction; Chromosomes, Human; Gene Duplication; Proto-Oncogenes; Transcription Factors; Translocation, Genetic
Aventín, A., La Starza, R., Casas, S., Nomdedéu, J., Queipo de Llano, M., Cimino, G., et al. (2003). MLL tandem duplication in two cases of acute myelocytic leukemia with unbalanced translocations: der(16)t(11;16)(q23;p13) and der(18)t(11;18)(q22;p11.2). CANCER GENETICS AND CYTOGENETICS, 142(1), 8-12.
Aventín, A; La Starza, R; Casas, S; Nomdedéu, J; Queipo de Llano, M; Cimino, G; LO COCO, F; Sierra, J; Mecucci, C
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/162055
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