t(9;11)(p22;q23)
A new chromosomal insertion involving the MLL gene was detected by fluorescence in situ hybridization in a patient with acute myeloblastic leukemia (AML) and a t(9;11)(p21;q13). Genomic polymerase chain reaction confirmed the MLL-MLLT3 gene fusion. A review of the literature on MLL insertions shows that the opposite orientation of the genes involved in the fusion plays a role in the genesis of the rearrangement in most of the cases reported.
acute myeloblastic leukemia (AML) (2 to 5%)
AML M5 most often (up to 25% of AML M5a)
AML M4
de novo and therapy related AML with antitopoisomerase II drugs (epipodophyllotoxins, anthracyclins, actinomycin D)
post-chemotherapy childhood acute lymphoblastic leukemia (15334554)
Molecular biology
fusion gene between MLL (ALL1) at 11q23 and MLLT3 (AF9) at 9p22
Variants
t(9;11;19)(p22;q23;p13.3) (16450356)
References
Soler G, Radford I, Meyer C, Marschalek R, Brouzes C, Ghez D, Romana S, Berger R. MLL insertion with MLL-MLLT3 gene fusion in acute leukemia: case report and review of the literature. Cancer Genet Cytogenet. 2008 May;183(1):53-59. PMID: 18474298
Vieira L, Sousa AC, Matos P, Marques B, Alaiz H, Ribeiro MJ, Braga P, da Silva MG, Jordan P. Three-way translocation involves MLL, MLLT3, and a novel cell cycle control gene, FLJ10374, in the pathogenesis of acute myeloid leukemia with t(9;11;19)(p22;q23;p13.3). Genes Chromosomes Cancer. 2006 May;45(5):455-69. PMID: 16450356
Krivtsov, A. V.; Twomey, D.; Feng, Z.; Stubbs, M. C.; Wang, Y.; Faber, J.; Levine, J. E.; Wang, J.; Hahn, W. C.; Gilliland, D. G.; Golub, T. R.; Armstrong, S. A. : Transformation from committed progenitor to leukaemia stem cell initiated by MLL-AF9. Nature 442: 818-822, 2006. PubMed ID : 16862118
Pramparo, T.; Grosso, S.; Messa, J.; Zatterale, A.; Bonaglia, M. C.; Chessa, L.; Balestri, P.; Rocchi, M.; Zuffardi, O.; Giorda, R. :
Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy. Hum. Genet. 118: 76-81, 2005. PubMed ID : 16001262
Strissel, P. L.; Strick, R.; Tomek, R. J.; Roe, B. A.; Rowley, J. D.; Zeleznik-Le, N. J. : DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis. Hum. Molec. Genet. 9: 1671-1679, 2000. PubMed ID : 10861294
