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A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.

التفاصيل البيبلوغرافية
العنوان: A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.
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
الوصف
تدمد:2044-5385
DOI:10.1038/s41408-020-0293-6