| Written | 2011-02 | Adriana Zamecnikova |
| Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait |
| 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 (myeloid/lymphoid or mixed lineage leukemia) |
| Location | 11q23.3 |
| 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 |
| 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. |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 14 13:40:30 CEST 2018 |
For comments and suggestions or contributions, please contact us