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t(X;11)(q22;q23) KMT2A/?

Written2011-02Adriana Zamecnikova
Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
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 1573
 
  Partial karyotypes showing the chromosomal translocation t(X;11)(q22;q23).

Clinics and Pathology

Disease The chromosomal translocation t(X;11)(q22;q23) occurs very rarely, with only three cases of infants young children having been described in the literature; 2 AML cases: a 3 years old male, diagnosed with AML-M2 (Harrison et al., 1998) and 2 years old female diagnosed with acute megakaryoblastic leukemia (FAB type M7) (Ribeiro et al., 1993). The one ALL case described in a 4 years old male had a complex karyotype with chromosomal translocation t(11;14)(q13;q32), and monosomy 22 (Soszynska et al., 2008). Of note, the fourth AML (FAB type M2) case reported by Slater in a 10 months old male was shown to involve the SEPTIN6 gene located on Xq24 (Slater et al., 2002).
Phenotype / cell stem origin Suggested involvement of a pluripotent stem cell or a myeloid progenitor cell; myeloid lineage.
Etiology No known prior exposure.
Epidemiology Only 3 cases to date, sex ratio 2M/1F.
Prognosis From the known data, the 3 years old male, diagnosed with AML-M2 remained alive in complete remission at 97 months; the ALL patient was in complete remission after 39 months.

Cytogenetics

Note Breakpoints difficult to ascertain; cytogenetic appearance may be similar to t(X;11)(q13;q23) involving the AFX gene that fuses to MLL in acute leukemias.
Cytogenetics Morphological t(X;11)(q22;q23).
Additional anomalies Sole abnormality in AML-M2 case, part of a hyperploid karyotype associated with +6, +8, +19, +21, +21 in a child with acute megakaryoblastic leukemia and complex karyotype in ALL case associated with t(11;14)(q13;q32), and monosomy 22, indicating that the t(X;11)(q22;q23) is likely to be a secondary anomaly to t(11;14)(q13;q32) in ALL.

Genes involved and Proteins

Note The gene in Xq22 is yet unknown, it is therefore uncertain whether this translocation involve a new MLL partner.
Gene Name KMT2A
Location 11q23
Note The MLL gene is frequently disrupted by a variety of chromosomal rearrangements that occur in acute myeloblastic leukemia (AML) and in acute lymphoblastic leukemia (ALL), with a peak incidence in infant leukemia as well as in secondary, topoisomerase II inhibitor-related leukemia.
Dna / Rna The MLL genomic structure consists of 36 exons distributed over 100 kb, the mRNA of ~11.9 kb encodes a 3969 amino-acid nuclear protein with a molecular weight of of 430 kDa.
Protein The MLL protein is a multi-domain molecule with regions of homology to diverse proteins; a major regulator of class I homeobox (HOX) gene expression.

Result of the chromosomal anomaly

Hybrid gene
Note 5' MLL - PARTNER GENE 3'.
MLL translocation breakpoints cluster within an 8.3-kb region spanning exons 5-11; genomic breakpoint junction usually created on the der(11) chromosome.
  
Fusion Protein
Oncogenesis Expression of a chimeric protein with actively transforming properties; altered patterns of MLL activity in hematopoietic stem cells resulting in blockage of hematopoietic maturation.
  

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.
Case Report Chromosomal translocation t(X;11)(q22;q23) involving the MLL gene

Bibliography

Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.
Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM.
Leukemia. 1998 May;12(5):811-22.
PMID 9593286
 
Acute megakaryoblastic leukemia in children and adolescents: a retrospective analysis of 24 cases.
Ribeiro RC, Oliveira MS, Fairclough D, Hurwitz C, Mirro J, Behm FG, Head D, Silva ML, Raimondi SC, Crist WM, et al.
Leuk Lymphoma. 1993 Jul;10(4-5):299-306. (REVIEW)
PMID 8220128
 
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
 
The application of conventional cytogenetics, FISH, and RT-PCR to detect genetic changes in 70 children with ALL.
Soszynska K, Mucha B, Debski R, Skonieczka K, Duszenko E, Koltan A, Wysocki M, Haus O.
Ann Hematol. 2008 Dec;87(12):991-1002. Epub 2008 Jul 17.
PMID 18633615
 

Citation

This paper should be referenced as such :
Zamecnikova, A
t(X;11)(q22;q23)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(9):763-764.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0X11q22q23ID1573.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(X;11)(q22;q23) KMT2A/?

External links

Mitelman databaset(X;11)(q22;q23) [Case List]    t(X;11)(q22;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9807/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9813/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(X;11)(q22;q23) KMT2A/?
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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