ASXL1 mutations in myeloid neoplasms: pathogenetic considerations, impact on clinical outcomes and survival

References

• Koopmans SM, van Marion AM, Schouten HC. Myeloproliferative neoplasia: a review of clinical criteria and treatment. Neth J Med 2012;70:159-67
   PubMed Web of Science ®Google Scholar
• Jamieson CH, Barroga CF, Vainchenker WP. Miscreant myeloproliferative disorder stem cells. Leukemia 2008;22:2011-19
   PubMed Web of Science ®Google Scholar
• Bejar R, Levine R, Ebert BL. Unraveling the molecular pathophysiology of myelodysplastic syndromes. J Clin Oncol 2011;29:504-15
   PubMed Web of Science ®Google Scholar
• Fisher CL, Berger J, Randazzo F, Brock HW. A human homolog of Additional sex combs, Additional Sex Combs-Like 1, maps to chromosome 20q11. Gene 2003;306:115-26
   PubMed Web of Science ®Google Scholar
• Breen TR, Duncan IM. Maternal expression of genes that regulate the bithorax complex of Drosophila melanogaster. Dev Biol 1986;118:442-56
   PubMed Web of Science ®Google Scholar
• Fisher CL, Randazzo F, Humphries RK, Brock HW. Characterization of Asxl1, a murine homolog of Additional sex combs, and analysis of the Asx-like gene family. Gene 2006;369:109-18
   PubMed Web of Science ®Google Scholar
• Milne TA, Sinclair DA, Brock HW. The Additional sex combs gene of Drosophila is required for activation and repression of homeotic loci, and interacts specifically with Polycomb and super sex combs. Mol Gen Genet 1999;261:753-61
   PubMedGoogle Scholar
• Nüsslein-Volhard C, Wieschaus EHK. Mutations affecting the pattern of the larval cuticle in Drosophila melanogaster. Wilhelm Roux's Arch Developmental Biol 1984;193:267-82
   PubMedGoogle Scholar
• Jacobs JJ, van Lohuizen M. Polycomb repression: from cellular memory to cellular proliferation and cancer. Biochim Biophys Acta 2002;1602:151-61
   PubMed Web of Science ®Google Scholar
• Birnie GD. The HL60 cell line: a model system for studying human myeloid cell differentiation. Br J Cancer Suppl 1988;9:41-5
   PubMedGoogle Scholar
• Florea AM, Splettstoesser F, Dopp E, et al. Modulation of intracellular calcium homeostasis by trimethyltin chloride in human tumour cells: neuroblastoma SY5Y and cervix adenocarcinoma HeLa S3. Toxicology 2005;216:1-8
   PubMed Web of Science ®Google Scholar
• Klein E, Ben-Bassat H, Neumann H, et al. Properties of the K562 cell line, derived from a patient with chronic myeloid leukemia. Int J Cancer 1976;18:421-31
   PubMed Web of Science ®Google Scholar
• Yang B, Lu XC, Zhang F, et al. [Inhibitory effect of Tanreqing injection on proliferation of T lymphoblastic leukemia cell line Molt4 in vitro and its mechanism]. Zhongguo Shi Yan Xue Ye Xue Za Zhi 2011;19:44-9
   PubMedGoogle Scholar
• Karpova MB, Schoumans J, Ernberg I, et al. Raji revisited: cytogenetics of the original Burkitt’s lymphoma cell line. Leukemia 2005;19:159-61
   PubMed Web of Science ®Google Scholar
• Xiong B, Ma L, Hu X, et al. Characterization of side population cells isolated from the colon cancer cell line SW480. Int J Oncol 2014;45:1175-83
   PubMed Web of Science ®Google Scholar
• Yamamura H, Ugawa S, Ueda T, Shimada S. Expression analysis of the epithelial Na + channel delta subunit in human melanoma G-361 cells. Biochem Biophys Res Commun 2008;366:489-92
   PubMed Web of Science ®Google Scholar
• Brecqueville M, Rey J, Bertucci F, et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer 2012;51:743-55
   PubMed Web of Science ®Google Scholar
• Gelsi-Boyer V, Brecqueville M, Devillier R, et al. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol 2012;5:12
   PubMed Web of Science ®Google Scholar
• Patnaik MM, Itzykson R, Lasho TL, et al. ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients. Leukemia 2014;28:2206-12
   Google Scholar
• Muramatsu H, Makishima H, Maciejewski JP. Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions. Semin Oncol 2012;39:67-73
   PubMed Web of Science ®Google Scholar
• Vainchenker W, Delhommeau F, Constantinescu SN, Bernard OA. New mutations and pathogenesis of myeloproliferative neoplasms. Blood 2011;118:1723-35
   PubMed Web of Science ®Google Scholar
• Gelsi-Boyer V, Trouplin V, Adelaide J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol 2009;145:788-800
   PubMed Web of Science ®Google Scholar
• Carbuccia N, Murati A, Trouplin V, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia 2009;23:2183-6
   PubMed Web of Science ®Google Scholar
• Abdel-Wahab O, Adli M, LaFave LM, et al. ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. Cancer Cell 2012;22:180-93
   PubMed Web of Science ®Google Scholar
• Itzykson R, Kosmider O, Renneville A, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol 2013;31:2428-36
   PubMed Web of Science ®Google Scholar
• Mozziconacci M, Birnbaum D. ASXL1 (additional sex combs like 1 (Drosophila)). Atlas Genet Cytogenet Oncol Haematol 2011;15:1-4
   Google Scholar
• Davies C, Yip BH, Fernandez-Mercado M, et al. Silencing of ASXL1 impairs the granulomonocytic lineage potential of human CD34(+) progenitor cells. Br J Haematol 2013;160:842-50
   PubMed Web of Science ®Google Scholar
• Inoue D, Kitaura J, Togami K, et al. Myelodysplastic syndromes are induced by histone methylation-altering ASXL1 mutations. J Clin Invest 2013;123:4627-40
   PubMed Web of Science ®Google Scholar
• Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 2013;122:3616-27; quiz 3699
   PubMed Web of Science ®Google Scholar
• Larsson CA, Cote G, Quintas-Cardama A. The changing mutational landscape of acute myeloid leukemia and myelodysplastic syndrome. Mol Cancer Res 2013;11:815-27
   PubMed Web of Science ®Google Scholar
• Kwok B, Mohrmann R, Janatpout K, et al. Next-generation sequencing Of ASXL1, TP53, RUNX1, EZH2, and ETV6 identifies a significant proportion of lower-risk myelodysplastic syndromes with poor prognostic indicators. Blood 2013;122:1552
   Web of Science ®Google Scholar
• Huh J, Tiu RV, Gondek LP, et al. Characterization of chromosome arm 20q abnormalities in myeloid malignancies using genome-wide single nucleotide polymorphism array analysis. Genes Chromosomes Cancer 2010;49:390-9
   PubMed Web of Science ®Google Scholar
• Stein BL, Williams DM, O’Keefe C, et al. Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes. Haematologica 2011;96:1462-9
   PubMed Web of Science ®Google Scholar
• Makishima H, Rataul M, Gondek LP, et al. FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leuk Res 2010;34:447-53
   PubMed Web of Science ®Google Scholar
• Lindsley RC, Mar BG, Mazzola E, et al. Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood 2015;125:1367-76
   PubMed Web of Science ®Google Scholar
• Shen H, Chao H, Ding Z, et al. CALR and ASXL1 mutation analysis in 190 patients with essential thrombocythemia. Leuk Lymphoma 2015;56:820-2
   PubMed Web of Science ®Google Scholar
• Pellagatti A, Roy S, Di Genua C, et al. Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression. Leukemia 2016;30:247-50
   PubMed Web of Science ®Google Scholar
• Chou WC, Huang HH, Hou HA, et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood 2010;116:4086-94
   PubMed Web of Science ®Google Scholar
• Schnittger S, Eder C, Jeromin S, et al. ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia 2013;27:82-91
   PubMed Web of Science ®Google Scholar
• Jankowska AM, Makishima H, Tiu RV, et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood 2011;118:3932-41
   PubMed Web of Science ®Google Scholar
• West RR, Hsu AP, Holland SM, et al. Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. Haematologica 2014;99:276-81
   PubMed Web of Science ®Google Scholar
• Devillier R, Gelsi-Boyer V, Brecqueville M, et al. Acute myeloid leukemia with myelodysplasia-related changes are characterized by a specific molecular pattern with high frequency of ASXL1 mutations. Am J Hematol 2012;87:659-62
   PubMed Web of Science ®Google Scholar
• Devillier R, Mansat-De Mas V, Gelsi-Boyer V, et al. Role of ASXL1 and TP53 mutations in the molecular classification and prognosis of acute myeloid leukemias with myelodysplasia-related changes. Oncotarget 2015;6:8388-96
   PubMed Web of Science ®Google Scholar
• Ohgami RS, Ma L, Merker JD, et al. Next-generation sequencing of acute myeloid leukemia identifies the significance of TP53, U2AF1, ASXL1, and TET2 mutations. Mod Pathol 2015;28:706-14
   PubMed Web of Science ®Google Scholar
• Patnaik MM, Padron E, LaBorde RR, et al. Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes. Leukemia 2013;27:1504-10
   PubMed Web of Science ®Google Scholar
• Chen TC, Hou HA, Chou WC, 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:e177
   PubMed Web of Science ®Google Scholar
• Ferrer-Marin F, Bellosillo B, Martinez-Aviles L, et al. Leukemic transformation driven by an ASXL1 mutation after a JAK2V617F-positive primary myelofibrosis: clonal evolution and hierarchy revealed by next-generation sequencing. J Hematol Oncol 2013;6:68
   PubMed Web of Science ®Google Scholar
• Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 2011;364:2496-506
   PubMed Web of Science ®Google Scholar
• Cervera N, Itzykson R, Coppin E, et al. Gene mutations differently impact the prognosis of the myelodysplastic and myeloproliferative classes of chronic myelomonocytic leukemia. Am J Hematol 2014;89:604-9
   PubMed Web of Science ®Google Scholar
• Gelsi-Boyer V, Trouplin V, Roquain J, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol 2010;151:365-75
   PubMed Web of Science ®Google Scholar
• Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016;127:2391-405
   PubMed Web of Science ®Google Scholar
• Thol F, Friesen I, Damm F, et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol 2011;29:2499-506
   PubMed Web of Science ®Google Scholar
• Tefferi A, Guglielmelli P, Lasho TL, et al. CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: an international study of 570 patients. Leukemia 2014;28:1494-500
   PubMed Web of Science ®Google Scholar
• Vannucchi AM, Lasho TL, Guglielmelli P, et al. Mutations and prognosis in primary myelofibrosis. Leukemia 2013;27:1861-9
   PubMed Web of Science ®Google Scholar
• Papaemmanuil E, Gerstung M, Bullinger L, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med 2016;374:2209-21
   PubMed Web of Science ®Google Scholar
• Guglielmelli P, Biamonte F, Rotunno G, et al. Impact of mutational status on outcomes in myelofibrosis patients treated with ruxolitinib in the COMFORT-II study. Blood 2014;123:2157-60
   PubMed Web of Science ®Google Scholar
• Harrison C, Kiladjian JJ, Al-Ali HK, et al. JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis. N Engl J Med 2012;366:787-98
   PubMed Web of Science ®Google Scholar
• Pratcorona M, Abbas S, Sanders MA, et al. Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value. Haematologica 2012;97:388-92
   PubMed Web of Science ®Google Scholar
• Metzeler KH, Becker H, Maharry K, et al. ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN favorable genetic category. Blood 2011;118:6920-9
   PubMed Web of Science ®Google Scholar
• Bejar R, Lord A, Stevenson K, et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood 2014;124:2705-12
   PubMed Web of Science ®Google Scholar
• Tefferi A. Primary myelofibrosis: 2014 update on diagnosis, risk-stratification, and management. Am J Hematol 2014;89:915-25
   PubMed Web of Science ®Google Scholar