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ins(X;11)(q24;q23q13)|ins(X;11)(q24;q23q23)|t(X;11)(q24;q23) KMT2A/SEPT6

Written2018-01Jean-Loup Huret, Philippe Dessen

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 3458
Note Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation, go to  How to contribute

Clinics and Pathology

Disease Acute monoblastic leukemia (FAB type M5)|Acute monoblastic leukemia with differentiation (FAB type M5b)|Acute myeloblastic leukemia with maturation (FAB type M2)|Acute myeloblastic leukemia without maturation (FAB type M1)|Acute myeloid leukemia, NOS|Acute myelomonocytic leukemia (FAB type M4)

Genes involved and Proteins

Gene NameKMT2A
Location 11q23.3
Gene NameSEPT6
Location Xq24

Bibliography

An ins(X;11)(q24;q23) fuses the MLL and the Septin 6/KIAA0128 gene in an infant with AML-M2
Borkhardt A, Teigler-Schlegel A, Fuchs U, Keller C, König M, Harbott J, Haas OA
Genes Chromosomes Cancer 2001 Sep;32(1):82-8
PMID 11477664
 
SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24
Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y
Cancer Res 2002 Jan 15;62(2):333-7
PMID 11809673
 
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site
Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA
Oncogene 2002 Jul 11;21(30):4706-14
PMID 12096348
 
SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24
Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y
Cancer Res 2002 Jan 15;62(2):333-7
PMID 11809673
 
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site
Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA
Oncogene 2002 Jul 11;21(30):4706-14
PMID 12096348
 
Molecular analysis of t(X;11)(q24;q23) in an infant with AML-M4
Fu JF, Liang DC, Yang CP, Hsu JJ, Shih LY
Genes Chromosomes Cancer 2003 Nov;38(3):253-9
PMID 14506700
 
MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia
Kadkol SS, Bruno A, Oh S, Schmidt ML, Lindgren V
Cancer Genet Cytogenet 2006 Jul 15;168(2):162-7
PMID 16843108
 
MLL/SEPTIN6 chimeric transcript from inv ins(X;11)(q24;q23q13) in acute monocytic leukemia: report of a case and review of the literature
Kim HJ, Ki CS, Park Q, Koo HH, Yoo KH, Kim EJ, Kim SH
Genes Chromosomes Cancer 2003 Sep;38(1):8-12
PMID 12874781
 
The MLL recombinome of acute leukemias
Meyer C, Schneider B, Jakob S, Strehl S, Attarbaschi A, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, den Boer ML, Pieters R, Ennas MG, Angelucci E, Koehl U, Greil J, Griesinger F, Zur Stadt U, Eckert C, Szczepański T, Niggli FK, Schäfer BW, Kempski H, Brady HJ, Zuna J, Trka J, Nigro LL, Biondi A, Delabesse E, Macintyre E, Stanulla M, Schrappe M, Haas OA, Burmeister T, Dingermann T, Klingebiel T, Marschalek R
Leukemia 2006 May;20(5):777-84
PMID 16511515
 
Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctions
Cerveira N, Micci F, Santos J, Pinheiro M, Correia C, Lisboa S, Bizarro S, Norton L, Glomstein A, Asberg AE, Heim S, Teixeira MR
Haematologica 2008 Jul;93(7):1076-80
PMID 18492691
 
Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: a study of 7 patients and review of the literature
De Braekeleer E, Meyer C, Douet-Guilbert N, Morel F, Le Bris MJ, Berthou C, Arnaud B, Marschalek R, Férec C, De Braekeleer M
Blood Cells Mol Dis 2010 Apr 15;44(4):268-74
PMID 20206559
 


Translocations implicated (Data extracted from papers in the Atlas)

 ins(X;11)(q24;q23q13)|ins(X;11)(q24;q23q23)|t(X;11)(q24;q23) KMT2A/SEPT6

External links

KMT2A (11q23.3) SEPT6 (Xq24)

Mitelman databaseins(X;11)(q24;q23q13)|ins(X;11)(q24;q23q23)|t(X;11)(q24;q23) [Case List]    ins(X;11)(q24;q23q13)|ins(X;11)(q24;q23q23)|t(X;11)(q24;q23) [Transloc-MCList] KMT2A/SEPT6 [Fusion-MCList]
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMap (UZH-SIB Zurich)[select an item]
 
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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