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t(11;14)(q23;q32) KMT2A::CEP170B

Written2009-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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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 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1539

Clinics and Pathology

Disease Treatment related leukemia (treatment related acute myeloid leukemia, t-AML)
Epidemiology The involvement of MLL in 11q23 and KIAA0284 in 14q32 was shown in only 2 cases (Burmeister et al., 2008; De Braekeleer et al., 2009). These 2 cases were treatment related leukemia cases (t-AML for: treatment related acute myeloid leukemia). These t-AML cases occurred in a 45-year-old male patient (a M1 case) and in a 65-year-old female patient, 2 years after an urothelial carcinoma and 5 years after a ductal mammary carcinoma respectively. In 1 other case of t(11;14)(q23;q32), a myelodysplastic syndrome case, the involvement of MLL was excluded, and IGH in 14q32 was rearranged (Yujiri et al., 2009). Finally, in 2 other cases of t(11;14)(q23;q32), no molecular studies were available (Kaneko et al., 1982; Hanson et al., 1993). The two latter cases were a biphenotypic leukemia (BAL) case and an acute lymphoblastic leukemia (ALL) in a 33-year-old male patient.
Prognosis One of the t-AML cases died 2 months after diagnosis, while the other one was lost to follow-up 5 years after diagnosis of the t-AML. The ALL case died 7 months after diagnosis.


Cytogenetics Morphological The t(11;14)(q23;q32) was the sole anomaly in the 2 cases were MLL and KIAA0284 involvements were ascertained. The BAL case showed a complex karyotype with -7 and i(17q), the ALL case also had a complex karyotype, with +12.

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 36 exons, multiple transcripts 13-15 kb.
Protein 3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a CXXC domain), a DNA methyl transferase motif, a bromodomain. MLL is cleaved by taspase 1 into 2 proteins before entering the nucleus, called MLL-N and MLL-C. The FYRN and a FRYC domains of native MLL associate MLL-N and MLL-C in a stable complex; they form a multiprotein complex with transcription factor TFIID. MLL is a transcriptional regulatory factor. MLL can be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development.
Gene NameKIAA1524
Location 3q13.13
Protein KIAA0284 presents an amino acids similarity of 30% with CEP170. CEP170 is a forkhead-associated domain protein which associates with centrosomes during interphase and with spindle microtubules during mitosis (Guarguaglini et al., 2005).

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL - 3' KIAA0284
Transcript The breakpoint was located in intron 9 of MLL. The breakpoint in KIAA0284 was located in intron 2 in one case, and intron 4 in the other case.
Fusion Protein
Description N-term MLL - C-term KIAA0284

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.


A MLL-KIAA0284 fusion gene in a patient with secondary acute myeloid leukemia and t(11;14)(q23;q32).
Burmeister T, Meyer C, Thiel G, Reinhardt R, Thiel E, Marschalek R.
Blood Cells Mol Dis. 2008 Sep-Oct;41(2):210-4. Epub 2008 Jul 18.
PMID 18640063
A second case of secondary acute myeloblastic leukemia associated with the MLL-KIAA0284 fusion gene.
De Braekeleer E, Ianotto JC, Douet-Guilbert N, Meyer C, Morel F, Le Bris MJ, Marschalek R, Berthou C, Ferec C, De Braekeleer M.
Blood Cells Mol Dis. 2009 May-Jun;42(3):292-3. Epub 2009 Feb 28.
PMID 19254855
The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles.
Guarguaglini G, Duncan PI, Stierhof YD, Holmstrom T, Duensing S, Nigg EA.
Mol Biol Cell. 2005 Mar;16(3):1095-107. Epub 2004 Dec 22.
PMID 15616186
Acute biphenotypic leukaemia: immunophenotypic and cytogenetic analysis.
Hanson CA, Abaza M, Sheldon S, Ross CW, Schnitzer B, Stoolman LM.
Br J Haematol. 1993 May;84(1):49-60.
PMID 7687860
Correlation of karyotype with clinical features in acute lymphoblastic leukemia.
Kaneko Y, Rowley JD, Variakojis D, Chilcote RR, Check I, Sakurai M.
Cancer Res. 1982 Jul;42(7):2918-29.
PMID 6952960
A novel t(11;14)(q23;q32) in a case of myelodysplastic syndrome.
Yujiri T, Miyazaki M, Imoto S.
Cancer Genet Cytogenet. 2009 Jan 15;188(2):124-5.
PMID 19100518


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2010;14(6):593-594.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;14)(q23;q32) KMT2A/CEP170B

External links

KMT2A (11q23.3) CEP170B (14q32.33)

Mitelman databaset(11;14)(q23;q32)
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 ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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