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t(6;11)(q15;q23) KMT2A::?

Written2009-03Tae Sung Park, Jong Rak Choi
Department of Laboratory Medicine, Kyung Hee University College of Medicine, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea (TSP); Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea (JRC)

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ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1522
  Giemsa-banding partial karyograms of t(6;11)(q15;q23). (Each left side chromosomes 6 and 11: normal, each right side chromosomes 6 and 11: derivative chromosome).

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Note Only 4 cases to date, 3 of which do not provide further descriptions.
Phenotype / cell stem origin All cases were acute myeloid leukaemia (AML); AML-M0 (1 case), AML-M2 (1 case), AML-M4 (2 cases).
Epidemiology All patients were female between the ages of 13 to 68 years.
Multi-color FISH image showing t(6;11)(q15;q23).
Bone marrow morphology from AML-M2 case with t(6;11)(q15;q23).
Prognosis Very poor in 1 case (survival : only 2 weeks in AML-M2).


Cytogenetics Morphological It shows distinct balanced chromosomal abnormalities between chromosomes 6 and 11; however, it should be differentiated from t(6;11)(q13;q23) in association with MLL/ SMAP1 rearrangement.
Cytogenetics Molecular MLL breakapart FISH probe is very useful.
Additional anomalies del(5)(q13q15) in 1 case, sole abnormality in remaining 3 cases.

Genes involved and Proteins

Note The gene involved in 6q15 is unknown.
Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Note More than 50 different translocation fusion partners in association with the MLL gene have been reported in the literature. In chromosome 6, t(6;11)(q27;q23) (MLL/AF6 rearrangement) is the most commonly encountered chromosomal abnormality. In contrast, t(6;11)(q13;q23) or t(6;11)(q15;q23) is the rarest type of MLL rearrangement involving the long arm of chromosome 6.

Result of the chromosomal anomaly

Hybrid gene
Note Unknown. However, MLL/SMAP1 rearrangement was excluded in one case by both our group and Dr. Meyer.
Fusion Protein
Note Unknown.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.
Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R.
Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):449-54. Epub 2004 Dec 30.
PMID 15626757
Comparison of multiplex reverse transcription polymerase chain reaction and conventional cytogenetics as a diagnostic strategy for acute leukemia.
Park JS, Yi JW, Jeong SH, Lee HW, Kang SY, Choi JH, Kim HC, Park JE, Kim E, Lim YA, Kim HJ, Cho SR.
Int J Lab Hematol. 2008 Dec;30(6):513-8.
PMID 18983303
MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities.
Park TS, Lee ST, Song J, Lee KA, Lee SG, Kim J, Suh B, Kim SJ, Lee JH, Park R, Choi JR.
Cancer Genet Cytogenet. 2008 Nov;187(1):50-3.
PMID 18992643
Analysis of balanced rearrangements of chromosome 6 in acute leukemia: clustered breakpoints in q22-q23 and possible involvement of c-MYB in a new recurrent translocation, t(6;7)(q23;q32 through 36).
Sinclair P, Harrison CJ, Jarosova M, Foroni L.
Haematologica. 2005 May;90(5):602-11.
PMID 15921375
Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0).
Stasi R, Del Poeta G, Venditti A, Masi M, Stipa E, Dentamaro T, Cox C, Dallapiccola B, Papa G.
Blood. 1994 Mar 15;83(6):1619-25.
PMID 8123853


This paper should be referenced as such :
Park, TS ; Choi, JR
Atlas Genet Cytogenet Oncol Haematol. 2010;14(2):161-163.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes CASP8AP2

Translocations implicated (Data extracted from papers in the Atlas)

 t(6;11)(q15;q23) KMT2A/?

External links

Mitelman databaset(6;11)(q15;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9813/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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