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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Mini Review t(X;11)(q13;q23) Adriana Zamecnikova Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait (AZ) Published in Atlas Database: February 2011 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0X11ID1127.html DOI: 10.4267/2042/46030 This article is an update of : Bojesen SE. t(X;11)(q13;q23). Atlas Genet Cytogenet Oncol Haematol 2001;5(4):291-292. This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2011 Atlas of Genetics and Cytogenetics in Oncology and Haematology a t(X;11)(q13;q23) was cloned revealing the involvement of BRWD3 gene recently located on Xq21.1 (Kalla et al., 2005). Identity Phenotype/cell stem origin Suggested involvement of a pluripotent stem cell or a myeloid progenitor cell; very rarely in lymphoid lineage. Etiology No known prior exposure; case of AML M2 developed in a 6 years old male previously treated by chemotherapy and radiotherapy for acute lymphoblastic leukemia (Harrison et al., 1998). t(X;11)(q13;q23) G- banding - Courtesy Melanie Zenger and Claudia Haferlach. Clinics and pathology Epidemiology Disease 6 cases to date, children aged 6 months to 5 years, male predominance; sex ratio 4M/2F. Described in infants and young children; 4 cases of acute myeloid leukemia (AML) (Pui et al., 1987; Raimondi et al., 1989; Pui et al., 1989; Harrison et al., 1998) and one case of acute lymphoblastic leukemia (ALL) (Smith et al., 1973). With one exception, the FAB types in cases of AML were M4. Peripheral leucocytes at diagnosis of this ALL case were cultured and are presently known as the KARPAS-45 cell line (Karpas et al., 1977). In addition, MLL/AFX1 fusion was confirmed in an AML case with highly complex change originally published involving the Xq22 locus (Nacheva et al., 1982; Parry et al., 1994; Borkhardtet al., 1997). Note This translocation has also been found in 2 cases of CLL (Bentz et al., 1995; Kalla et al., 2005). In one case Atlas Genet Cytogenet Oncol Haematol. 2011; 15(9) Clinics From the known data: WBC: 21.6 to 91x109/L, case with a complex t(X;11) associated with fever, enlargement of the liver, spleen and parotid glands, blood in the stool (Karpas et al., 1977); mediastinal mass, dyspnoea, no hepatosplenomegaly, WBC: 5x109/L in T-ALL (Smith et al., 1973). Prognosis Survival: poor prognosis; 3 patients died within a year after diagnosis, and one patient died after 24.5 months. Genetics Note Breakpoints difficult to ascertain in suboptimal preparations. 761 t(X;11)(q13;q23) Zamecnikova A Fusion protein Cytogenetics Note Chimeric proteins that contain the N-terminus of MLL; hybrid transcript MLL-AFX1 contains the code for the following domains: AT-hook + DNA methyltransferase (from MLL) + part, aa 147-187 of the DNA-binding domain (from AFX1). Probes Pooled cDNA FISH-probes from AFX1: AFX 12, 115, 106, 108, 114. Additional anomalies Part of a highly complex change in one case; in KARPAS 45: Hypotetraploidy. -Y, -3, +6, -14, -18 t(1;5)(q21;q12.2)x2, del4(4)(q22), del(16)(q22). References Smith JL, Clein GP, Barker CR, Collins RD. Characterisation of malignant mediastinal lymphoid neoplasm (Sternberg sarcoma) as thymic in origin. Lancet. 1973 Jan 13;1(7794):747 Genes involved and proteins Note Cloning and characterization of AFX the gene that fuses to MLL in one case of AML and in the leukemic cell line. Karpas A, Hayhoe FGJ, Greenberger JS, Barker CR, Cawley JC, Lowenthal RM, Moloney WC.. The Establishment and Cytological, Cytochemical and Immunological Characterisation of Human Haemic Cell Lines: Evidence for Heterogeneity. Leukaemia Res 1977; 1 : 35-49. AFX1 (All-1 fusion partner on chromosome X, MLLT7) Nacheva E, Fischer P, Haas O, Manolova Y, Manolov G, Levan A.. Acute myelogenous leukemia in a child with primary involvement of chromosomes 11 and X. Hereditas. 1982;97(2):273-88. Location Xq13 DNA/RNA AFX consists of two exons and encodes for a protein of 501 amino acids. Protein Transcription factor; high degree of homology between AFXI and the forkhead protein family and highly homologous to the human FKHR protein. Pui CH, Raimondi SC, Murphy SB, Ribeiro RC, Kalwinsky DK, Dahl GV, Crist WM, Williams DL.. An analysis of leukemic cell chromosomal features in infants. Blood. 1987 May;69(5):128993. Pui CH, Behm FG, Raimondi SC, Dodge RK, George SL, Rivera GK, Mirro J Jr, Kalwinsky DK, Dahl GV, Murphy SB.. Secondary acute myeloid leukemia in children treated for acute lymphoid leukemia. N Engl J Med. 1989 Jul 20;321(3):136-42. Raimondi SC, Kalwinsky DK, Hayashi Y, Behm FG, Mirro J Jr, Williams DL.. Cytogenetics of childhood acute nonlymphocytic leukemia. Cancer Genet Cytogenet. 1989 Jul 1;40(1):13-27. MLL (Mixed lineage leukemia gene, ALL1, HRX, and Hrtx) Location 11q23 DNA/RNA The Mixed-Lineage Leukemia gene consists of at least 36 exons, encoding a 3969 amino-acid nuclear protein with a molecular weight of nearly 430 kDa. Protein Multidomain molecule; shares homology with the Drosophila trithorax protein; function as a positive regulator of gene expression in embryonic development and hematopoiesis. Parry P, Wei Y, Evans G.. Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family. Genes Chromosomes Cancer. 1994 Oct;11(2):79-84. Result of the chromosomal anomaly Harrison CJ, Cuneo A, Clark R, Johansson B, LafagePochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM.. Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants. Leukemia. 1998 May;12(5):811-22. Hybrid gene Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P.. Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. Genes Chromosomes Cancer. 2005 Feb;42(2):128-43. Bentz M, Huck K, du Manoir S, Joos S, Werner CA, Fischer K, Dohner H, Lichter P.. Comparative genomic hybridization in chronic B-cell leukemias shows a high incidence of chromosomal gains and losses. Blood. 1995 Jun 15;85(12):3610-8. Borkhardt A, Repp R, Haas OA, Leis T, Harbott J, Kreuder J, Hammermann J, Henn T, Lampert F.. Cloning and characterization of AFX, the gene that fuses to MLL in acute leukemias with a t(X;11)(q13;q23). Oncogene. 1997 Jan 16;14(2):195-202. Note 5' MLL - AFX 3' as well as the 5' AFX - MLL 3'. This article should be referenced as such: Zamecnikova A. t(X;11)(q13;q23). Atlas Genet Cytogenet Oncol Haematol. 2011; 15(9):761-762. Atlas Genet Cytogenet Oncol Haematol. 2011; 15(9) 762