تقرير
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.
العنوان: | A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome. |
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المؤلفون: | Bache I; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark. ibache@sund.ku.dk.; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. ibache@sund.ku.dk., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Mehrjouy MM; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Centre for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Østrup O; Centre for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Byrjalsen A; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Metzner M; MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Vyas P; MRC MHU, BRC Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, WIMM, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Department of Haematology, Oxford University Hospitals NHS Trust, Oxford, UK., Schmiegelow K; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Institute for Clinical Medicine, Faculty of Medicine, University of Copenhagen, Copenhagen, Denmark., Lausen B; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Andersen MK; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. |
المصدر: | Blood cancer journal [Blood Cancer J] 2020 Mar 03; Vol. 10 (3), pp. 27. Date of Electronic Publication: 2020 Mar 03. |
نوع المنشور: | Letter; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101568469 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-5385 (Electronic) Linking ISSN: 20445385 NLM ISO Abbreviation: Blood Cancer J Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: New York, NY : Nature Pub. Group |
مواضيع طبية MeSH: | Down Syndrome/*genetics , Homeodomain Proteins/*metabolism , Leukemia, Megakaryoblastic, Acute/*genetics , Repressor Proteins/*metabolism , Transcription Factors/*metabolism , Translocation, Genetic/*genetics, Female ; Humans ; Male ; Twins, Monozygotic |
References: | Hasle, H., Clemmensen, I. H. & Mikkelsen, M. Risks of leukaemia and solid tumours in individuals with Down’s syndrome. Lancet. 355, 165–169 (2000). (PMID: 10.1016/S0140-6736(99)05264-2) Wechsler, J. et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat. Genet. 32, 148–152 (2002). (PMID: 10.1038/ng955) Roberts, I. et al. GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. Blood 122, 3908–3917 (2013). (PMID: 10.1182/blood-2013-07-515148) Blink, M. et al. Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study. Haematologica 99, 299–307 (2014). (PMID: 10.3324/haematol.2013.089425) Forestier, E. et al. Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study. Blood 111, 1575–1583 (2008). (PMID: 10.1182/blood-2007-09-114231) Yoshida, K. et al. The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat. Genet. 45, 1293–1301 (2013). (PMID: 10.1038/ng.2759) Nikolaev, S. I. et al. Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. Blood 122, 554–561 (2013). (PMID: 10.1182/blood-2013-03-491936) Ma, Y. et al. Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia. Proc. Natl Acad. Sci. 110, 7429–7433 (2013). (PMID: 10.1073/pnas.1221099110) Valdés-Mas, R. et al. Transplacental transfer of essential thrombocythemia in monozygotic twins. Blood 128, 1894–1896 (2016). (PMID: 10.1182/blood-2016-06-724252) Shimada, A. et al. Fetal origin of the GATA1 mutation in identical twins with transient myeloproliferative disorder and acute megakaryoblastic leukemia accompanying Down syndrome. Blood 103, 366 (2004). (PMID: 10.1182/blood-2003-09-3219) Uffmann, M. et al. Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial. Blood 129, 3314–3321 (2017). (PMID: 10.1182/blood-2017-01-765057) McNerney, M. E. et al. CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia. Blood 121, 975–983 (2013). (PMID: 10.1182/blood-2012-04-426965) Wong, C. C. et al. Inactivating CUX1 mutations promote tumorigenesis. Nat. Genet. 46, 33–38 (2014). (PMID: 10.1038/ng.2846) Bolouri, H. et al. The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions. Nat. Med. 24, 103–112 (2018). (PMID: 10.1038/nm.4439) Labuhn, M. et al. Mechanisms of progression of myeloid preleukemia to transformed myeloid leukemia in children with Down syndrome. Cancer Cell 36, 123–138 (2019). (PMID: 10.1016/j.ccell.2019.06.007) |
معلومات مُعتمدة: | MC_UU_00016/11 United Kingdom MRC_ Medical Research Council; MR/L008963/1 United Kingdom MRC_ Medical Research Council; MC_UU_12009/11 United Kingdom MRC_ Medical Research Council; MC_U137961146 United Kingdom MRC_ Medical Research Council; G1000729 United Kingdom MRC_ Medical Research Council |
المشرفين على المادة: | 0 (CUX1 protein, human) 0 (Homeodomain Proteins) 0 (Repressor Proteins) 0 (Transcription Factors) |
تواريخ الأحداث: | Date Created: 20200305 Date Completed: 20201120 Latest Revision: 20210303 |
رمز التحديث: | 20221213 |
مُعرف محوري في PubMed: | PMC7054393 |
DOI: | 10.1038/s41408-020-0293-6 |
PMID: | 32127516 |
قاعدة البيانات: | MEDLINE |
تدمد: | 2044-5385 |
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DOI: | 10.1038/s41408-020-0293-6 |