Association of unbalanced translocation der(1;7) with germline GATA2 mutations
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu dopisy, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
RC2 DK122533
NIDDK NIH HHS - United States
PubMed
34469508
PubMed Central
PMC8662074
DOI
10.1182/blood.2021012781
PII: S0006-4971(21)01538-X
Knihovny.cz E-zdroje
- MeSH
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- myelodysplastické syndromy genetika MeSH
- transkripční faktor GATA2 nedostatek genetika MeSH
- translokace genetická MeSH
- zárodečné mutace * MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- dopisy MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Názvy látek
- GATA2 protein, human MeSH Prohlížeč
- transkripční faktor GATA2 MeSH
Center for Medical Genetics Ghent University Hospital Ghent Belgium
Dana Farber and Boston Children's Cancer and Blood Disorders Center Boston MA
Department of Computational Biology St Jude Children's Research Hospital Memphis TN
Department of Genetics The National Institute of Oncology Bratislava Slovakia
Department of Haematology Addenbrooke's Hospital Cambridge United Kingdom
Department of Hematology St Jude Children's Research Hospital Memphis TN
Department of Human Genetics Hannover Medical School Hannover Germany
Department of Laboratory Medicine Clinical Center National Institutes of Health Bethesda MD
Department of Leukemia University of Texas MD Anderson Cancer Center Houston TX
Department of Medicine Division of Hematology University of Washington Seattle WA
Department of Pathology Boston Children's Hospital Boston MA
Department of Pediatric Hematology and Oncology Oslo University Hospital Oslo Norway
Department of Pediatrics Aarhus University Hospital Skejby Aarhus Denmark
Department of Pediatrics Hematology Oncology Baylor College of Medicine Houston TX
Dutch Childhood Oncology Group Utrecht The Netherlands
Faculty of Biology University of Freiburg Freiburg Germany
German Cancer Consortium Heidelberg Germany
Hematology Department Oncology Institute Francisco Gentil Lisbon Portugal
Labdia Labordiagnostik GmbH Clinical Genetics Vienna Austria
Laboratory for Oncology University Children's Hospital Zürich Zürich Switzerland
Laboratory of Molecular Diagnostics Central Hospital of Southern Pest Budapest Hungary
Medical Genetics Department of Medicine and Surgery University of Insubria Varese Italy
National Children's Cancer Service Children's Health Ireland at Crumlin Dublin Ireland
Pediatric Hematology and Oncology Schneider Children's Medical Center of Israel Petah Tikva Israel
Zobrazit více v PubMed
Hsu AP, Sampaio EP, Khan J, et al. . Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653-2655. PubMed PMC
Dickinson RE, Griffin H, Bigley V, et al. . Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011;118(10):2656-2658. PubMed PMC
Hahn CN, Chong CE, Carmichael CL, et al. . Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012-1017. PubMed PMC
Pasquet M, Bellanné-Chantelot C, Tavitian S, et al. . High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013;121(5):822-829. PubMed PMC
Nováková M, Žaliová M, Suková M, et al. . Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome. Haematologica. 2016;101(6): 707-716. PubMed PMC
Wlodarski MW, Hirabayashi S, Pastor V, et al. ; EWOG-MDS . Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 2016;127(11):1387-1397, quiz 1518. PubMed
Wang L, Ogawa S, Hangaishi A, et al. . Molecular characterization of the recurrent unbalanced translocation der(1;7)(q10;p10). Blood. 2003;102(7):2597-2604. PubMed
Hussain FT, Nguyen EP, Raza S, et al. . Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications. Am J Hematol. 2012;87(7):684-686. PubMed
Ganster C, Müller-Thomas C, Haferlach C, et al. . Comprehensive analysis of isolated der(1;7)(q10;p10) in a large international homogenous cohort of patients with myelodysplastic syndromes. Genes Chromosomes Cancer. 2019;58(10):689-697. PubMed
Göhring G, Michalova K, Beverloo HB, et al. . Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome. Blood. 2010;116(19):3766-3769. PubMed
Ganapathi KA, Townsley DM, Hsu AP, et al. . GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Blood. 2015;125(1):56-70. PubMed PMC
Wang X, Muramatsu H, Okuno Y, et al. . GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies. Haematologica. 2015;100(10):e398-e401. PubMed PMC
Schwartz JR, Ma J, Lamprecht T, et al. . The genomic landscape of pediatric myelodysplastic syndromes. Nat Commun. 2017;8(1):1557. PubMed PMC
Kurata T, Shigemura T, Muramatsu H, Okuno Y, Nakazawa Y. A case of GATA2-related myelodysplastic syndrome with unbalanced translocation der(1;7)(q10;p10). Pediatr Blood Cancer. 2017;64(8): e26419. PubMed
Donadieu J, Lamant M, Fieschi C, et al. ; French GATA2 study group . Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. Haematologica. 2018;103(8):1278-1287. PubMed PMC
Pozdnyakova O, Miron PM, Tang G, et al. . Cytogenetic abnormalities in a series of 1,029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some undefined single chromosomal abnormalities. Cancer. 2008;113(12):3331-3340. PubMed
Zhang T, Xu Y, Pan J, et al. . High frequency of RUNX1 mutation in myelodysplastic syndrome patients with whole-arm translocation of der(1;7)(q10;p10). Leukemia. 2017;31(10):2257-2260. PubMed
Wlodarski MW, Collin M, Horwitz MS. GATA2 deficiency and related myeloid neoplasms. Semin Hematol. 2017;54(2):81-86. PubMed PMC
Wehr C, Grotius K, Casadei S, et al. . A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing. Blood. 2018;132(11):1211-1215. PubMed PMC
Kozyra EJ, Pastor VB, Lefkopoulos S, et al. ; European Working Group of MDS in Childhood (EWOG-MDS) . Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency. Leukemia. 2020;34(10):2673-2687. PubMed PMC
Fox LC, Tan M, Brown AL, et al. . A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability. Br J Haematol. 2020;190(5):e297-e301. PubMed
Gao J, Gentzler RD, Timms AE, et al. . Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature [published correction appears in J Hematol Oncol. 2015;8:131]. J Hematol Oncol. 2014;7(1):36. PubMed PMC
Hahn CN, Brautigan PJ, Chong CE, et al. . Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. Leukemia. 2015;29(8):1795-1797. PubMed
Catto LFB, Borges G, Pinto AL, et al. . Somatic genetic rescue in hematopoietic cells in GATA2 deficiency. Blood. 2020;136(8):1002-1005. PubMed
Pastor V, Hirabayashi S, Karow A, et al. . Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia. 2017;31(3):759-762. PubMed
Pastor VB, Sahoo SS, Boklan J, et al. . Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7. Haematologica. 2018;103(3):427-437. PubMed PMC
Fernandez AGL, Crescenzi B, Pierini V, et al. . A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes. Leukemia. 2019;33(10):2481-2494. PubMed PMC