ASXL1 mutations are infrequent in young patients with primary acute myeloid leukemia and their detection has a limited role in therapeutic risk stratification

References

• Patel JP, Levine RL. How do novel molecular genetic markers influence treatment decisions in acute myeloid leukemia?. Hematology Am Soc Hematol Educ Program 2012;2012:28–34.
   PubMedGoogle Scholar
• Ofran Y, Rowe JM. Genetic profiling in acute myeloid leukaemia–where are we and what is its role in patient management. Br J Haematol 2013;160:303–320.
   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
• Hoischen A, van Bon BW, Rodriguez-Santiago B, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 2011;43:729–731.
   PubMed Web of Science ®Google Scholar
• Fisher CL, Randazzo F, Humphries RK, et al. Characterization of Asxl1, a murine homolog of Additional sex combs, and analysis of the Asx-like gene family. Gene 2006;369:109–118.
   PubMed Web of Science ®Google Scholar
• Lee SW, Cho YS, Na JM, et al. ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1. J Biol Chem 2010;285:18–29.
   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;22:180–193.
   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;116:4086–4094.
   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;118:6920–6929.
   PubMed Web of Science ®Google Scholar
• Paschka P, Schlenk RF, Herzig J, et al. ASXL1 mutations predict for resistance to chemotherapy and inferior outcome in younger adult patients with acute myeloid leukemia (AML): a study of the German-Austrian AMLSG. Blood 2011;118(Suppl. 1): Abstract 412.
   Google Scholar
• Patel JP, Gonen M, Figueroa ME, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012;366:1079–1089.
   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;97:388–392.
   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
• Shen Y, Zhu YM, Fan X, et al. Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia. Blood 2011;118:5593–5603.
   PubMed Web of Science ®Google Scholar
• Carbuccia N, Trouplin V, Gelsi-Boyer V, et al. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. Leukemia 2010;24:469–473.
   PubMed Web of Science ®Google Scholar
• Fernandez-Mercado M, Yip BH, Pellagatti A, et al. Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics. PLoS One 2012;7: e42334.
   PubMed Web of Science ®Google Scholar
• Hann IM, Stevens RF, Goldstone AH, et al. Randomized comparison of DAT versus ADE as induction chemotherapy in children and younger adults with acute myeloid leukemia. Results of the Medical Research Council's 10th AML trial (MRC AML10). Adult and Childhood Leukaemia Working Parties of the Medical Research Council. Blood 1997;89:2311–2318.
   PubMed Web of Science ®Google Scholar
• Goldstone AH, Burnett AK, Wheatley K, et al. Attempts to improve treatment outcomes in acute myeloid leukemia (AML) in older patients: the results of the United Kingdom Medical Research Council AML11 trial. Blood 2001;98:1302–1311.
   PubMed Web of Science ®Google Scholar
• Burnett AK, Hills RK, Milligan DW, et al. Attempts to optimize induction and consolidation treatment in acute myeloid leukemia: results of the MRC AML12 trial. J Clin Oncol 2010;28: 586–595.
   PubMed Web of Science ®Google Scholar
• Mead AJ, Linch DC, Hills RK, et al. FLT3 tyrosine kinase domain mutations are biologically distinct from and have a significantly more favorable prognosis than FLT3 internal tandem duplications in patients with acute myeloid leukemia. Blood 2007;110:1262–1270.
   PubMed Web of Science ®Google Scholar
• Gale RE, Green C, Allen C, et al. The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia. Blood 2008;111:2776–2784.
   PubMed Web of Science ®Google Scholar
• Green CL, Evans CM, Hills RK, et al. The prognostic significance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ITD status. Blood 2010;116:2779–2782.
   PubMed Web of Science ®Google Scholar
• Green CL, Evans CM, Zhao L, et al. The prognostic significance of IDH2 mutations in AML depends on the location of the mutation. Blood 2011;118:409–412.
   PubMed Web of Science ®Google Scholar
• Green CL, Koo KK, Hills RK, et al. Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations. J Clin Oncol 2010;28:2739–2747.
   PubMed Web of Science ®Google Scholar
• Welch JS, Ley TJ, Link DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 2012;150:264–278.
   PubMed Web of Science ®Google Scholar
• Grimwade D, Walker H, Oliver F, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 1998;92: 2322–2333.
   PubMed Web of Science ®Google Scholar