Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.
ASXL1
20q deletion
azacitidine
gene mutations
myelodysplastic syndromes
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
revised:
05
06
2021
received:
26
03
2021
accepted:
09
06
2021
pubmed:
24
7
2021
medline:
16
12
2021
entrez:
23
7
2021
Statut:
ppublish
Résumé
In myelodysplastic syndromes (MDS), the 20q deletion [del(20q)] may cause deletion of the ASXL1 gene. We studied 153 patients with MDS and del(20q) to assess the incidence, prognostic value and impact on response to azacitidine (AZA) of ASXL1 chromosomal alterations and genetic mutations. Additionally, in vitro assay of the response to AZA in HAP1 (HAP1
Substances chimiques
ASXL1 protein, human
0
Antimetabolites, Antineoplastic
0
Repressor Proteins
0
Azacitidine
M801H13NRU
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
708-717Informations de copyright
© 2021 British Society for Haematology and John Wiley & Sons Ltd.
Références
Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454-65.
Bench AJ, Nacheva EP, Hood TL, Holden JL, French L, Swanton S, et al. Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG). Oncogene. 2000;19(34):3902-13.
Bacher U, Haferlach T, Schnittger S, Zenger M, Meggendorfer M, Jeromin S, et al. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact. Br J Haematol. 2014;164(6):822-33.
Asada S, Fujino T, Goyama S, Kitamura T. The role of ASXL1 in hematopoiesis and myeloid malignancies. Cell Mol Life Sci. 2019;76(13):2511-23.
Abdel-Wahab O, Adli M, LaFave L, Gao J, Hricik T, Shih A, et al. ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. Cancer Cell. 2012;22(2):180-93.
Abdel-Wahab O, Gao J, Adli M, Dey A, Trimarchi T, Chung YR, et al. Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. J Exp Med. 2013;210(12):2641-59.
Wang J, Li Z, He Y, Pan F, Chen S, Rhodes S, et al. Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice. Blood. 2014;123(4):541-53.
Brezinova J, Sarova I, Svobodova K, Lhotska H, Ransdorfova S, Izakova S, et al. ASXL1 gene alterations in patients with isolated 20q deletion. Neoplasma. 2019;66(4):627-30.
Gelsi-Boyer V, Trouplin V, Adélaïde J, Bonansea J, Cervera N, Carbuccia N, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788-800.
Rocquain J, Gelsi-Boyer V, Adélaïde J, Murati A, Carbuccia N, Vey N, et al. Alteration of cohesin genes in myeloid diseases. Am J Hematol. 2010;85(9):717-9.
Thol F, Friesen I, Damm F, Yun H, Weissinger EM, Krauter J, et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol. 2011;29(18):2499-506.
Lin Y, Zheng Y, Wang ZC, Wang SY. Prognostic significance of ASXL1 mutations in myelodysplastic syndromes and chronic myelomonocytic leukemia: a meta-analysis. Hematology. 2016;21(8):454-61.
Bejar R, Lord A, Stevenson K, Bar-Natan M, Pérez-Ladaga A, Zaneveld J, et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood. 2014;124(17):2705-12.
Wu P, Weng J, Li M, Lu Z, Deng C, Sun Q, et al. Co-occurrence of RUNX1 and ASXL1 mutations underlie poor response and outcome for MDS patients treated with HMAs. Am J Transl Res. 2019;11(6):3651-8.
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-405.
Cheson BD, Greenberg PL, Bennett JM, Lowenberg B, Wijermans PW, Nimer SD, et al. Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia. Blood. 2006;108(2):419-25.
McGowan-Jordan J, Simons A, Schmid M (eds). ISCN 2016: An international system for human cytogenetic nomenclature. Basel: Karger Publishers; 2016.
Aslan D, Garde C, Nygaard MK, Helbo AS, Dimopoulos K, Hansen JW, et al. Tumor suppressor microRNAs are downregulated in myelodysplastic syndrome with spliceosome mutations. Oncotarget. 2016;7(9):9951-63.
Martín I, Such E, Navarro B, Vicente A, López-Pavía M, Ibáñez M, et al. Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS). Leuk Lymphoma. 2017;58(7):1686-93.
Tefferi A, Lasho TL, Abdel-Wahab O, Guglielmelli P, Patel J, Caramazza D, et al. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia. 2010;24(7):1302-9.
Molina-Vila MA, Bertran-Alamillo J, Gascó A, Mayo-de-las-Casas C, Sánchez-Ronco M, Pujantell-Pastor L, et al. Nondisruptive p53 mutations are associated with shorter survival in patients with advanced non-small cell lung cancer. Clin Cancer Res. 2014;20(17):4647-59.
Laborde RR, Patnaik MM, Lasho TL, Finke CM, Hanson CA, Knudson RA, et al. SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML. Leukemia. 2013;27(10):2100-2.
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics. 2019;35(11):1978-80.
Olbrich T, Mayor-Ruiz C, Vega-Sendino M, Gomez C, Ortega S, Ruiz S, et al. A p53-dependent response limits the viability of mammalian haploid cells. Proc Natl Acad Sci USA. 2017;114(35):9367-72.
Duchmann M, Yalniz FF, Sanna A, Sallman D, Coombs CC, Renneville A, et al. Prognostic role of gene mutations in chronic myelomonocytic leukemia patients treated with hypomethylating agents. EBioMedicine. 2018;31:174-81.
Paolillo R, Spinello I, Quaranta MT, Pasquini L, Pelosi E, Lo Coco F, et al. Human TM9SF4 is a new gene down-regulated by hypoxia and involved in cell adhesion of leukemic cells. PLoS One. 2015;10(5):e0126968.
Roversi FM, Pericole FV, Machado-Neto JA, da Silva Santos Duarte A, Longhini AL, Corrocher FA, et al. Hematopoietic cell kinase (HCK) is a potential therapeutic target for dysplastic and leukemic cells due to integration of erythropoietin/PI3K pathway and regulation of erythropoiesis: HCK in erythropoietin/PI3K pathway. Biochim Biophys Acta Mol Basis Dis. 2017;1863(2):450-61.
Mackinnon RN, Selan C, Wall M, Baker E, Nandurkar H, Campbell LJ. The paradox of 20q11.21 amplification in a subset of cases of myeloid malignancy with chromosome 20 deletion. Genes Chromos Cancer. 2010;49(11):998-1013.
Ku M, MacKinnon RN, Wall M, Narayan N, Walkley C, Cheng H-C, et al. Hemopoietic cell kinase amplification with protein tyrosine phosphatase receptor T depletion leads to polycythemia, aberrant marrow erythoid maturation, and splenomegaly. Sci Rep. 2019;9(1):7050.
Kirito K, Nagashima T, Ozawa K, Komatsu N. Constitutive activation of Stat1 and Stat3 in primary erythroleukemia cells. Int J Hematol. 2002;75(1):51-4.
Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A. 2006;140(24):2757-67.
Wu L, Song L, Xu L, Chang C, Xu F, Wu D, et al. Genetic landscape of recurrent ASXL1, U2AF1, SF3B1, SRSF2, and EZH2 mutations in 304 Chinese patients with myelodysplastic syndromes. Tumour Biol. 2016;37(4):4633-40.
Inoue D, Kitaura J, Matsui H, Hou H-A, Chou W-C, Nagamachi A, et al. SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. Leukemia. 2015;29(4):847-57.
Wu S-J, Kuo Y-Y, Hou H-A, Li L-Y, Tseng M-H, Huang C-F, et al. The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution. Blood. 2012;120(15):3106-11.
Chen T-C, Hou H-A, Chou W-C, Tang J-L, Kuo Y-Y, Chen C-Y, et al. Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome. Blood Cancer J. 2014;4(1):e177.
Malcovati L, Cazzola M. Refractory anemia with ring sideroblasts. Best Pract Res Clin Haematol. 2013;26(4):377-85.
Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496-506.
Unnikrishnan A, Papaemmanuil E, Beck D, Deshpande NP, Verma A, Kumari A, et al. Integrative genomics identifies the molecular basis of resistance to azacitidine therapy in myelodysplastic syndromes. Cell Rep. 2017;20(3):572-85.
Bullinger L, Döhner K, Döhner H. Genomics of acute myeloid leukemia diagnosis and pathways. J Clin Oncol. 2017;35(9):934-46.
Gu X, Tohme R, Tomlinson B, Sakre N, Hasipek M, Durkin L, et al. Decitabine- and 5-azacytidine resistance emerges from adaptive responses of the pyrimidine metabolism network. Leukemia. 2021;35(4):1023-36.