McStay B. Nucleolar organizer regions: genomic ‘dark matter’ requiring illumination. Genes Dev. 2016;30:1598–610.
Article CAS PubMed PubMed Central Google Scholar
Ranieri R, Pianigiani G, Sciabolacci S, Perriello VM, Marra A, Cardinali V, et al. Current status and future perspectives in targeted therapy of NPM1-mutated AML. Leukemia. 2022;36:2351–67.
Article CAS PubMed PubMed Central Google Scholar
Panov KI, Friedrich JK, Russell J, Zomerdijk JC. UBF activates RNA polymerase I transcription by stimulating promoter escape. Embo J. 2006;25:3310–22.
Article CAS PubMed PubMed Central Google Scholar
Tremblay MG, Sibai DS, Valère M, Mars JC, Lessard F, Hori RT, et al. Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome. PLoS Genet. 2022;18:e1009644.
Article CAS PubMed PubMed Central Google Scholar
O’Mahony DJ, Rothblum LI. Identification of two forms of the RNA polymerase I transcription factor UBF. Proc Natl Acad Sci USA. 1991;88:3180–4.
Article PubMed PubMed Central Google Scholar
Stefanovsky VY, Moss T. The splice variants of UBF differentially regulate RNA polymerase I transcription elongation in response to ERK phosphorylation. Nucl Acids Res. 2008;36:5093–101.
Article CAS PubMed PubMed Central Google Scholar
Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, et al. Heterozygous de novo UBTF gain-of-function variant is associated with neurodegeneration in childhood. Am J Hum Genet. 2017;101:267–73.
Article CAS PubMed PubMed Central Google Scholar
Sedláčková L, Laššuthová P, Štěrbová K, Haberlová J, Vyhnálková E, Neupauerová J, et al. UBTF mutation causes complex phenotype of neurodegeneration and severe epilepsy in childhood. Neuropediatrics. 2019;50:57–60.
Zhang J, Zhang J, Liu W, Ge R, Gao T, Tian Q, et al. UBTF facilitates melanoma progression via modulating MEK1/2-ERK1/2 signalling pathways by promoting GIT1 transcription. Cancer Cell Int. 2021;21:543.
Article CAS PubMed PubMed Central Google Scholar
Tsoi H, Lam KC, Dong Y, Zhang X, Lee CK, Zhang J, et al. Pre-45s rRNA promotes colon cancer and is associated with poor survival of CRC patients. Oncogene. 2017;36:6109–18.
Article CAS PubMed PubMed Central Google Scholar
Bastian L, Hartmann AM, Beder T, Hänzelmann S, Kässens J, Bultmann M, et al. UBTF::ATXN7L3 gene fusion defines novel B cell precursor ALL subtype with CDX2 expression and need for intensified treatment. Leukemia. 2022;36:1676–80.
Article CAS PubMed PubMed Central Google Scholar
Stratmann S, Yones SA, Mayrhofer M, Norgren N, Skaftason A, Sun J, et al. Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets. Blood Adv. 2021;5:900–12.
Article CAS PubMed PubMed Central Google Scholar
Umeda M, Ma J, Huang BJ, Hagiwara K, Westover T, Abdelhamed S, et al. Integrated genomic analysis identifies UBTF tandem duplications as a recurrent lesion in pediatric acute myeloid leukemia. Blood Cancer Discov. 2022;3:194–207.
Article CAS PubMed PubMed Central Google Scholar
Kaburagi T, Shiba N, Yamato G, Yoshida K, Tabuchi K, Ohki K, et al. UBTF-internal tandem duplication as a novel poor prognostic factor in pediatric acute myeloid leukemia. Genes Chromosom Cancer. 2023;62:202–9.
Article CAS PubMed Google Scholar
Döhner H, Wei AH, Appelbaum FR, Craddock C, DiNardo CD, Dombret H, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022;140:1345–77.
Schaich M, Röllig C, Soucek S, Kramer M, Thiede C, Mohr B, et al. Cytarabine dose of 36 g/m² compared with 12 g/m² within first consolidation in acute myeloid leukemia: results of patients enrolled onto the prospective randomized AML96 study. J Clin Oncol. 2011;29:2696–702.
Article CAS PubMed Google Scholar
Röllig C, Serve H, Hüttmann A, Noppeney R, Müller-Tidow C, Krug U, et al. Addition of sorafenib versus placebo to standard therapy in patients aged 60 years or younger with newly diagnosed acute myeloid leukaemia (SORAML): a multicentre, phase 2, randomised controlled trial. Lancet Oncol. 2015;16:1691–9.
Schetelig J, Schaich M, Schäfer-Eckart K, Hänel M, Aulitzky WE, Einsele H, et al. Hematopoietic cell transplantation in patients with intermediate and high-risk AML: results from the randomized Study Alliance Leukemia (SAL) AML 2003 trial. Leukemia. 2015;29:1060–8.
Article CAS PubMed Google Scholar
Röllig C, Kramer M, Gabrecht M, Hänel M, Herbst R, Kaiser U, et al. Intermediate-dose cytarabine plus mitoxantrone versus standard-dose cytarabine plus daunorubicin for acute myeloid leukemia in elderly patients. Ann Oncol. 2018;29:973–8.
Stasik S, Middeke JM, Kramer M, Röllig C, Krämer A, Scholl S, et al. EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia. Haematologica. 2020;105:e228–e31.
Article PubMed PubMed Central Google Scholar
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–405.
Article CAS PubMed Google Scholar
Erlacher M, Stasik S, Yoshimi A, Georgi J-A, Göhring G, Rudelius M, et al. UBTF tandem duplications account for a third of advanced pediatric mds without genetic predisposition to myeloid neoplasia. Blood. 2022;140:1355–6.
Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–19.
Article PubMed PubMed Central Google Scholar
Cairns C, McStay B. HMG box 4 is the principal determinant of species specificity in the RNA polymerase I transcription factor UBF. Nucl Acids Res. 1995;23:4583–90.
Article CAS PubMed PubMed Central Google Scholar
Mitrea DM, Kriwacki RW. On the relationship status for Arf and NPM1-it’s complicated. Febs J. 2018;285:828–31.
Article CAS PubMed PubMed Central Google Scholar
Iacobucci I, Wen J, Meggendorfer M, Choi JK, Shi L, Pounds SB, et al. Genomic subtyping and therapeutic targeting of acute erythroleukemia. Nat Genet. 2019;51:694–704.
Article CAS PubMed PubMed Central Google Scholar
Zhou B, Wang J, Lee SY, Xiong J, Bhanu N, Guo Q, et al. PRDM16 Suppresses MLL1r leukemia via intrinsic histone methyltransferase activity. Mol Cell. 2016;62:222–36.
Article CAS PubMed PubMed Central Google Scholar
Hu T, Morita K, Hill MC, Jiang Y, Kitano A, Saito Y, et al. PRDM16s transforms megakaryocyte-erythroid progenitors into myeloid leukemia-initiating cells. Blood. 2019;134:614–25.
Article CAS PubMed PubMed Central Google Scholar
Shiba N, Ohki K, Kobayashi T, Hara Y, Yamato G, Tanoshima R, et al. High PRDM16 expression identifies a prognostic subgroup of pediatric acute myeloid leukaemia correlated to FLT3-ITD, KMT2A-PTD, and NUP98-NSD1: the results of the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 trial. Br J Haematol. 2016;172:581–91.
Article CAS PubMed Google Scholar
Kontro M, Kumar A, Majumder MM, Eldfors S, Parsons A, Pemovska T, et al. HOX gene expression predicts response to BCL-2 inhibition in acute myeloid leukemia. Leukemia. 2017;31:301–9.
Article CAS PubMed Google Scholar
Issa GC, Bidikian A, Venugopal S, Konopleva M, DiNardo CD, Kadia TM, et al. Clinical outcomes associated with NPM1 mutations in patients with relapsed or refractory AML. Blood Adv. 2023;7:933–42.
Article CAS PubMed Google Scholar
Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen IM, et al. Erythroid/megakaryocytic differentiation confers BCL-XL dependency and venetoclax resistance in acute myeloid leukemia. Blood. 2022;141:1610–25.
留言 (0)