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t(4;11)(q21;q23) AFF1/KMT2A

Written2018-01Jean-Loup Huret, Philippe Dessen

(Note : for Links provided by Atlas : click)


Atlas_Id 2514

Clinics and Pathology

Disease Acute lymphoblastic leukemia/lymphoblastic lymphoma

Genes involved and Proteins

Gene NameAFF1
Location 4q21.3-q22.1
Gene NameKMT2A
Location 11q23.3

To be noted

Non-annotated chromosomal abnormality. Preliminary data : if you are an author who wish to write a full paper/card on the chromosome abnormality, go to  How to contribute


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Prigogina EL, Puchkova GP, Mayakova SA
Cancer Genet Cytogenet 1988 Jun;32(2):183-203
PMID 3163259
Clinical characteristics of infant acute leukemia with or without 11q23 translocations
Kaneko Y, Shikano T, Maseki N, Sakurai M, Sakurai M, Takeda T, Hiyoshi Y, Mimaya J, Fujimoto T
Leukemia 1988 Oct;2(10):672-6
PMID 3172843
Chromosomal abnormalities identify high-risk and low-risk patients with acute lymphoblastic leukemia
Bloomfield CD, Goldman AI, Alimena G, Berger R, Borgström GH, Brandt L, Catovsky D, de la Chapelle A, Dewald GW, Garson OM, et al
Blood 1986 Feb;67(2):415-20
PMID 3455828
Chromosomal translocations play a unique role in influencing prognosis in childhood acute lymphoblastic leukemia
Williams DL, Harber J, Murphy SB, Look AT, Kalwinsky DK, Rivera G, Melvin SL, Stass S, Dahl GV
Blood 1986 Jul;68(1):205-12
PMID 3459555
Acute leukemia with chromosome translocation (4;11): 7 new patients and analysis of 71 cases
Lampert F, Harbott J, Ludwig WD, Bartram CR, Ritter J, Gerein V, Neidhardt M, Mertens R, Graf N, Riehm H
Blut 1987 Jun;54(6):325-35
PMID 3496135
Karyotypic and clinical findings in a consecutive series of children with acute lymphocytic leukemia
Heerema NA, Palmer CG, Baehner RL
Cancer Genet Cytogenet 1985 Jun;17(2):165-79
PMID 3857967
Acute lymphocytic leukaemia with t(4;11): a clinical subentity
Bjerrum OW, Phillip P, Müller-Bérat N, Hertz H, Killmann SA
Scand J Haematol 1985 Jul;35(1):96-101
PMID 3863233
Clinical and laboratory characteristics of acute leukemia with the 4;11 translocation
Mirro J, Kitchingman G, Williams D, Lauzon GJ, Lin CC, Callihan T, Zipf TF
Blood 1986 Mar;67(3):689-97
PMID 3947743
Translocation 4;11 acute leukemia: three case reports and review of the literature
Kocova M, Kowalczyk JR, Sandberg AA
Cancer Genet Cytogenet 1985 Mar 1;16(1):21-32
PMID 3971329
Clinicopathological characteristics of acute lymphoblastic leukemia with the 4;11 chromosome translocation
Levin MD, Michael PM, Garson OM, Tiedemann K, Firkin FC
Pathology 1984 Jan;16(1):63-6
PMID 6585773
Translocation 4; 11 in acute lymphoblastic leukemia: clinical characteristics and prognostic significance
Arthur DC, Bloomfield CD, Lindquist LL, Nesbit ME Jr
Blood 1982 Jan;59(1):96-9
PMID 6947832
Translocation t (4; 11) in acute lymphocytic leukemia (ALL)
Weh HJ, Hossfeld DK
Blut 1982 May;44(5):271-4
PMID 6951617
4;11 translocation in acute lymphoblastic leukemia: a specific syndrome
Morse HG, Heideman R, Hays T, Robinson A
Cancer Genet Cytogenet 1982 Oct;7(2):165-72
PMID 6959693
Chromosomal abnormalities in acute lymphoblastic leukemia
Bloomfield CD, Lindquist LL, Arthur D, McKenna RW, LeBien TW, Nesbit ME, Peterson BA
Cancer Res 1981 Nov;41(11 Pt 2):4838-43
PMID 7028252
Molecular analysis of infant acute lymphoblastic leukemia: MLL gene rearrangement and reverse transcriptase-polymerase chain reaction for t(4; 11)(q21; q23)
Hilden JM, Frestedt JL, Moore RO, Heerema NA, Arthur DC, Reaman GH, Kersey JH
Blood 1995 Nov 15;86(10):3876-82
PMID 7579356
Cytogenetic correlation with disease status and treatment outcome in advanced stage leukemia post bone marrow transplantation: a Southwest Oncology Group study (SWOG-8612)
Slovak ML, Kopecky KJ, Wolman SR, Henslee-Downey JP, Appelbaum FR, Forman SJ, Blume KG
Leuk Res 1995 Jun;19(6):381-8
PMID 7596150
Twenty-three cases of acute lymphoblastic leukemia with translocation t(4;11)(q21;q23): the implication of additional chromosomal aberrations
Schoch C, Rieder H, Freund M, Hoelzer D, Riehm H, Fonatsch C
Ann Hematol 1995 Apr;70(4):195-201
PMID 7748964
Cytogenetic features of infants less than 12 months of age at diagnosis of acute lymphoblastic leukemia: impact of the 11q23 breakpoint on outcome: a report of the Childrens Cancer Group
Heerema NA, Arthur DC, Sather H, Albo V, Feusner J, Lange BJ, Steinherz PG, Zeltzer P, Hammond D, Reaman GH
Blood 1994 Apr 15;83(8):2274-84
PMID 8161794
Detection of ALL-1/AF4 fusion transcript by reverse transcription-polymerase chain reaction for diagnosis and monitoring of acute leukemias with the t(4;11) translocation
Biondi A, Rambaldi A, Rossi V, Elia L, Caslini C, Basso G, Battista R, Barbui T, Mandelli F, Masera G, et al
Blood 1993 Nov 15;82(10):2943-7
PMID 8219184
Heterogeneity in MLL/AF-4 fusion messenger RNA detected by the polymerase chain reaction in t(4;11) acute leukemia
Hilden JM, Chen CS, Moore R, Frestedt J, Kersey JH
Cancer Res 1993 Sep 1;53(17):3853-6
PMID 8358709
Acute leukemias of different lineages have similar MLL gene fusions encoding related chimeric proteins resulting from chromosomal translocation
Corral J, Forster A, Thompson S, Lampert F, Kaneko Y, Slater R, Kroes WG, van der Schoot CE, Ludwig WD, Karpas A, et al
Proc Natl Acad Sci U S A 1993 Sep 15;90(18):8538-42
PMID 8378328
A method for identifying genes within yeast artificial chromosomes: application to isolation of MLL fusion cDNAs from acute leukaemia translocations
Forster A, Rabbitts TH
Oncogene 1993 Nov;8(11):3157-60
PMID 8414518
Groupe Français de Cytogénétique Hématologique
Collaborative study of karyotypes in childhood acute lymphoblastic leukemias
Leukemia 1993 Jan;7(1):10-9
PMID 8418369
A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias
Morrissey J, Tkachuk DC, Milatovich A, Francke U, Link M, Cleary ML
Blood 1993 Mar 1;81(5):1124-31
PMID 8443374
Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs
Nakamura T, Alder H, Gu Y, Prasad R, Canaani O, Kamada N, Gale RP, Lange B, Crist WM, Nowell PC, et al
Proc Natl Acad Sci U S A 1993 May 15;90(10):4631-5
PMID 8506309
Human homologue of the rat chondroitin sulfate proteoglycan, NG2, detected by monoclonal antibody 7
Behm FG, Smith FO, Raimondi SC, Pui CH, Bernstein ID
1, identifies childhood acute lymphoblastic leukemias with t(4;11)(q21;q23) or t(11;19)(q23;p13) and MLL gene rearrangements Blood
PMID 8562939
A Collaborative Study of the Group Français de Cytogénétique Hématologique
Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome
Blood 1996 Apr 15;87(8):3135-42
PMID 8605327
Cytogenetics adds independent prognostic information in adults with acute lymphoblastic leukaemia on MRC trial UKALL XA
Secker-Walker LM, Prentice HG, Durrant J, Richards S, Hall E, Harrison G
MRC Adult Leukaemia Working Party Br J Haematol
PMID 9054669
Therapeutic trial for infant acute lymphoblastic leukemia: the Pediatric Oncology Group experience (POG 8493)
Frankel LS, Ochs J, Shuster JJ, Dubowy R, Bowman WP, Hockenberry-Eaton M, Borowitz M, Carroll AJ, Steuber CP, Pullen DJ
J Pediatr Hematol Oncol 1997 Jan-Feb;19(1):35-42
PMID 9065717
Expression of BCR-ABL, E2A-PBX1, and MLL-AF4 fusion transcripts in newly diagnosed children with acute lymphoblastic leukemia: a Children's Cancer Group initiative
Gaynon PS, Crotty ML, Sather HN, Bostrom BC, Nachman JB, Steinherz PG, Heerema NA, Sarquis M, Tuel-Ahlgren L, Uckun FM
Leuk Lymphoma 1997 Jun;26(1-2):57-65
PMID 9250788
Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of MRC UKALL X
Chessels JM, Swansbury GJ, Reeves B, Bailey CC, Richards SM
Medical Research Council Working Party in Childhood Leukaemia Br J Haematol
PMID 9359508
Hematologic malignancies with t(4;11)(q21;q23)--a cytogenetic, morphologic, immunophenotypic and clinical study of 183 cases
Johansson B, Moorman AV, Haas OA, Watmore AE, Cheung KL, Swanton S, Secker-Walker LM
European 11q23 Workshop participants Leukemia
PMID 9593281
Clinical significance of MLL-AF4 fusion transcript expression in the absence of a cytogenetically detectable t(4;11)(q21;q23) chromosomal translocation
Uckun FM, Herman-Hatten K, Crotty ML, Sensel MG, Sather HN, Tuel-Ahlgren L, Sarquis MB, Bostrom B, Nachman JB, Steinherz PG, Gaynon PS, Heerema N
Blood 1998 Aug 1;92(3):810-21
PMID 9680349
Critical study of prognostic factors in childhood acute lymphoblastic leukaemia: differences in outcome are poorly explained by the most significant prognostic variables
Donadieu J, Auclerc MF, Baruchel A, Leblanc T, Landman-Parker J, Perel Y, Michel G, Cornu G, Bordigoni P, Sommelet D, Leverger G, Hill C, Schaison G
Fralle group French Acute Lymphoblastic Leukaemia study group
PMID 9722300
Immunophenotypic and genotypic features, clinical characteristics, and treatment outcome of adult pro-B acute lymphoblastic leukemia: results of the German multicenter trials GMALL 03/87 and 04/89
Ludwig WD, Rieder H, Bartram CR, Heinze B, Schwartz S, Gassmann W, Löffler H, Hossfeld D, Heil G, Handt S, Heyll A, Diedrich H, Fischer K, Weiss A, Völkers B, Aydemir U, Fonatsch C, Gökbuget N, Thiel E, Hoelzer D
Blood 1998 Sep 15;92(6):1898-909
PMID 9731046

Translocations implicated (Data extracted from papers in the Atlas)

 t(4;11)(q21;q23) AFF1/KMT2A

External links

AFF1 (4q21.3-q22.1) KMT2A (11q23.3)

Mitelman databaset(4;11)(q21;q23) [Case List]    t(4;11)(q21;q23) [Transloc-MCList] AFF1/KMT2A [Fusion-MCList]
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
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REVIEW articlesautomatic search in PubMed
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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jan 10 17:21:16 CET 2018

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