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Atlas of Genetics and Cytogenetics in Oncology and Haematology INIST-CNRS OPEN ACCESS JOURNAL Leukaemia Section Short Communication t(11;14)(q24;q32) IGH/miR-125b-1 Elise Chapiro, Florence Nguyen-Khac Service d'Hematologie Biologique, Hopital Pitie-Salpetriere, APHP, Universite Pierre et Marie Curie-Paris 6, France (EC, FNK) Published in Atlas Database: May 2012 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t1114q24q32IGHMIR125B1ID1587.html DOI: 10.4267/2042/48153 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology associated with a t(1;3)(p?33;q2?7) and +21. In the other one, the t(11;14) was associated with a del(9)(p13) and dic(?13;15)(q?;q10). In the pediatric case reported by Tassano et al., the t(11;14) was the sole abnormality. Clinics and pathology Disease B-cell precursor-acute lymphoblastic leukemia (BCPALL) Epidemiology Genes involved and proteins Rare, only 5 cases published to date (Sonoki et al., 2005; Chapiro et al., 2010; Tassano et al., 2010; Enomoto et al., 2011). IGH@ Location 14q32 Clinics miR-125b-1 Sonoki et al. reported a 35-year-old woman with a leukemic recurrence as bilateral ovarian tumors 7 years after allogenic bone marrow transplantation for BCPALL. Chapiro et al. reported two further adult cases: a female patient aged 45 years with an early-pre-B phenotype who died 21 months after diagnostic, and a male patient aged 33 years who were alive 4 months after diagnosis. Tassano et al. described a 12-year-old girl who developed a dramatic macrophage activation and died during the induction phase of treatment. Location 11q24 DNA/RNA MicroRNAs are a family of small noncoding RNA (1825 nucleotides) that play a key role in many fundamental processes, including differentiation, proliferation, and apoptosis, by regulating gene expression at the posttranscriptional level. MicroRNA miR-125b is the ortholog of lin-4 in Caenorhaditis elegans. It is transcribed from two loci located on chromosomes 11q24 (miR-125b-1) and 21q21 (miR-125b-2). Mir-125b is involved in hematopoiesis: it enhances survival and proliferation of early hematopoietic progenitors and blocks their terminal differentiation (Shaham et al., 2012). Mir-125b-1 and miR-125b-2 are both reported to be upregulated in some solid cancers and hematological malignancies, including BCP-ALL, and AML/MDS. In the latter, the over-expression of miR-125b-1 is the result of the rare translocation t(2;11)(p21;q23) (Bousquet et al., 2008). Cytogenetics Note In the case reported by Sonoki et al., the t(11;14) was not detected by cytogenetic analyses: an insertion of miR-125b-1 sequence into the IGH locus was found by molecular analyses. Cytogenetics morphological In one of the cases described by Chapiro et al., only the derivated chromosome 14 of t(11;14) was present, Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10) 746 t(11;14)(q24;q32) IGH/miR-125b-1 Chapiro E, Nguyen-Khac F Metaphase chromosomes hybridized with clones RP11-419A21 (Spectrum green) and RP11-164B14 (Spectrum red). A red/green fusion signal is seen on the normal chromosome 11, a red signal is relocated to the der(14) while a green signal remains on the der(11). Courtesy L Russell. myeloproliferative neoplasms, B- and T-ALL (Bousquet et al., 2010; O'Connell et al., 2010). Transgenic mice mimicking the t(11;14)(Eµ/miR-125b) die from B-cell malignancies resistant to apoptosis (Enomoto et al., 2011). A recent study showed that miR-125b exerts its oncogenic function in progenitor B-cells by targeting ARID3a/Bright, a transcription factor implicated in the regulation of expression of the immunoglobulin heavy chain: miR-125b mediates ARID3a repression, thus leading to a blockage in differentiation, increased proliferation and inhibition of apoptosis (Puissegur et al., 2012). Result of the chromosomal anomaly Hybrid gene Description The translocation links sequences located 5 to 18 kb centromeric of miR-125b-1 on chromosome 11 to a JH segment on chromosome 14. Fusion protein Description No fusion protein. Oncogenesis Transcriptional activation of miR-125b-1. Several murine models have been described, demonstrating that miR-125b is a leukemogenic oncogene. In bone marrow transplantation models, mice develop fatal hematological malignancies consisting of Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10) References Sonoki T, Iwanaga E, Mitsuya H, Asou N. Insertion of microRNA-125b-1, a human homologue of lin-4, into a rearranged immunoglobulin heavy chain gene locus in a patient with precursor B-cell acute lymphoblastic leukemia. Leukemia. 2005 Nov;19(11):2009-10 747 t(11;14)(q24;q32) IGH/miR-125b-1 Chapiro E, Nguyen-Khac F Bousquet M, Quelen C, Rosati R, Mansat-De Mas V, La Starza R, Bastard C, Lippert E, Talmant P, Lafage-Pochitaloff M, Leroux D, Gervais C, Viguié F, Lai JL, Terre C, Beverlo B, Sambani C, Hagemeijer A, Marynen P, Delsol G, Dastugue N, Mecucci C, Brousset P. Myeloid cell differentiation arrest by miR-125b-1 in myelodysplastic syndrome and acute myeloid leukemia with the t(2;11)(p21;q23) translocation. J Exp Med. 2008 Oct 27;205(11):2499-506 from a novel IGH translocation in childhood B-Cell precursor acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2010 Aug;49(8):682-7 Enomoto Y, Kitaura J, Hatakeyama K, Watanuki J, Akasaka T, Kato N, Shimanuki M, Nishimura K, Takahashi M, Taniwaki M, Haferlach C, Siebert R, Dyer MJ, Asou N, Aburatani H, Nakakuma H, Kitamura T, Sonoki T. Eµ/miR-125b transgenic mice develop lethal B-cell malignancies. Leukemia. 2011 Dec;25(12):1849-56 Bousquet M, Harris MH, Zhou B, Lodish HF. MicroRNA miR125b causes leukemia. Proc Natl Acad Sci U S A. 2010 Dec 14;107(50):21558-63 Puissegur MP, Eichner R, Quelen C, Coyaud E, Mari B, Lebrigand K, Broccardo C, Nguyen-Khac F, Bousquet M, Brousset P. B-cell regulator of immunoglobulin heavy chain transcription (Bright)/ARID3a is a direct target of the oncomir microRNA-125b in progenitor B-cells. Leukemia. 2012 Apr 3; Chapiro E, Russell LJ, Struski S, Cavé H, Radford-Weiss I, Valle VD, Lachenaud J, Brousset P, Bernard OA, Harrison CJ, Nguyen-Khac F. A new recurrent translocation t(11;14)(q24;q32) involving IGH@ and miR-125b-1 in B-cell progenitor acute lymphoblastic leukemia. Leukemia. 2010 Jul;24(7):1362-4 Shaham L, Binder V, Gefen N, Borkhardt A, Izraeli S. MiR-125 in normal and malignant hematopoiesis. Leukemia. 2012 Sep;26(9):2011-8 O'Connell RM, Chaudhuri AA, Rao DS, Gibson WS, Balazs AB, Baltimore D. MicroRNAs enriched in hematopoietic stem cells differentially regulate long-term hematopoietic output. Proc Natl Acad Sci U S A. 2010 Aug 10;107(32):14235-40 This article should be referenced as such: Chapiro E, Nguyen-Khac F. t(11;14)(q24;q32) IGH/miR-125b1. Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10):746748. Tassano E, Acquila M, Tavella E, Micalizzi C, Panarello C, Morerio C. MicroRNA-125b-1 and BLID upregulation resulting Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10) 748