ASXL1

Summary

Gene Symbol: ASXL1
Description: additional sex combs like 1, transcriptional regulator
Alias: BOPS, MDS, additional sex combs like transcriptional regulator 1
Species: human
Products:     ASXL1

Top Publications

  1. Chou W, Huang H, Hou H, Chen C, Tang J, Yao M, 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 publisher
    Mutations in the additional sex comb-like 1 (ASXL1) gene were recently shown in various myeloid malignancies, but they have not been comprehensively investigated in acute myeloid leukemia (AML)...
  2. Cho Y, Kim E, Park U, Sin H, Um S. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. J Biol Chem. 2006;281:17588-98 pubmed
    Additional sex comb-like 1 (ASXL1, 170 kDa), a mammalian homolog of Drosophila ASX, was identified as a protein that interacts with retinoic acid receptor (RAR) in the presence of retinoic acid (RA)...
  3. An Q, Wright S, Moorman A, Parker H, Griffiths M, Ross F, et al. Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21. Haematologica. 2009;94:1164-9 pubmed publisher
    ..PAX5 has been proposed to be the target gene on 9p, while for 20q, FISH analysis implicated the involvement of the ASXL1 gene, either by a breakpoint within (n=4) or centromeric (deletion, n=12) of the gene...
  4. Szpurka H, Jankowska A, Makishima H, Bodo J, Bejanyan N, Hsi E, et al. Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations. Leuk Res. 2010;34:969-73 pubmed publisher
    ..Based on the association of TET2/ASXL1 mutations with MDS/MPN we studied molecular pattern of these genes...
  5. Sugimoto Y, Muramatsu H, Makishima H, Prince C, Jankowska A, Yoshida N, et al. Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. Br J Haematol. 2010;150:83-7 pubmed publisher
    ..Recently, mutations in ASXL1 were identified in chronic myelomonocytic leukaemia and other myeloid malignancies...
  6. Itzykson R, Kosmider O, Renneville A, Gelsi Boyer V, Meggendorfer M, Morabito M, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol. 2013;31:2428-36 pubmed publisher
    ..have been proposed for chronic myelomonocytic leukemia (CMML), a disease in which some gene mutations-including ASXL1-have been associated with poor prognosis in univariable analyses...
  7. Pratcorona M, Abbas S, Sanders M, Koenders J, Kavelaars F, Erpelinck Verschueren C, et al. Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value. Haematologica. 2012;97:388-92 pubmed publisher
    Somatic mutations in the additional sex comb-like 1 (ASXL1) gene have been described in various types of myeloid malignancies, including acute myeloid leukemia...
  8. Traina F, Visconte V, Jankowska A, Makishima H, O Keefe C, Elson P, et al. Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis. PLoS ONE. 2012;7:e43090 pubmed publisher
    ..of heterozygosity and bidirectional sequencing was performed to evaluate the mutational status of TET2, DNMT3A, ASXL1, EZH2, IDH1/IDH2 and the CBL gene family. Overall survival (OS) was analyzed using the Kaplan-Meier method...
  9. Patnaik M, Padron E, Laborde R, Lasho T, Finke C, Hanson C, et al. Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes. Leukemia. 2013;27:1504-10 pubmed publisher
    ..Spliceosome component (P=0.4) and ASXL1 mutations (P=0.37) had no impact survival...

More Information

Publications104 found, 100 shown here

  1. Boultwood J, Perry J, Zaman R, Fernandez Santamaria C, Littlewood T, Kusec R, et al. High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia. 2010;24:1139-45 pubmed publisher
    ..the aberrant genomic regions were sequenced and mutation of the TP53 gene was observed in one case in BC and of the ASXL1 gene in 6 of 41 cases in CP or BC. Mutation of ASXL1 represents an important new molecular abnormality in CML.
  2. Hoischen A, van Bon B, Rodríguez Santiago B, Gilissen C, Vissers L, de Vries P, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011;43:729-31 pubmed publisher
    ..of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes...
  3. Stein B, Williams D, O Keefe C, Rogers O, Ingersoll R, Spivak J, 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 publisher
    ..Because ASXL1 lesions have been increasingly identified in myeloid neoplasms, we examined the relationships of ASXL1 mutation or ..
  4. Metzeler K, Becker H, Maharry K, Radmacher M, Kohlschmidt J, Mrozek 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 publisher
    The associations of mutations in the enhancer of trithorax and polycomb family gene ASXL1 with pretreatment patient characteristics, outcomes, and gene-/microRNA-expression profiles in primary cytogenetically normal acute myeloid ..
  5. Gelsi Boyer V, Brecqueville M, Devillier R, Murati A, Mozziconacci M, Birnbaum D. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. 2012;5:12 pubmed publisher
    The ASXL1 gene is one of the most frequently mutated genes in malignant myeloid diseases. The ASXL1 protein belongs to protein complexes involved in the epigenetic regulation of gene expression...
  6. Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adelaide J, Rey J, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23:2183-6 pubmed publisher
  7. Boultwood J, Perry J, Pellagatti A, Fernandez Mercado M, Fernandez Santamaria C, Calasanz M, et al. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. 2010;24:1062-5 pubmed publisher
  8. 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;145:788-800 pubmed publisher
    ..g. ASXL1, ASXL2, UTX, CXXC4, CXXC5, TET2, TET3). To validate some of these candidates we studied the sequence of ASXL1...
  9. Rocquain J, Carbuccia N, Trouplin V, Raynaud S, Murati A, Nezri M, et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer. 2010;10:401 pubmed publisher
    ..We searched for mutations in the ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in 65 myelodysplastic syndromes (MDSs) ..
  10. Thol F, Friesen I, Damm F, Yun H, Weissinger E, Krauter J, et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol. 2011;29:2499-506 pubmed publisher
    To study the incidence and prognostic impact of mutations in Additional sex comb-like 1 (ASXL1) in a large cohort of patients with myelodysplastic syndrome (MDS)...
  11. 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;22:180-93 pubmed publisher
    Recurrent somatic ASXL1 mutations occur in patients with myelodysplastic syndrome, myeloproliferative neoplasms, and acute myeloid leukemia, and are associated with adverse outcome...
  12. Carbuccia N, Trouplin V, Gelsi Boyer V, Murati A, Rocquain J, Adelaide J, et al. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. Leukemia. 2010;24:469-73 pubmed publisher
  13. Gelsi Boyer V, Trouplin V, Roquain J, Adélaïde J, Carbuccia N, Esterni B, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol. 2010;151:365-75 pubmed publisher
    ..MD-CMML) using array-comparative genomic hybridisation (aCGH) and sequencing of 13 candidate genes including ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, PTPN11, RUNX1, TET2 and WT1...
  14. Wlodarski M, Collin M, Horwitz M. GATA2 deficiency and related myeloid neoplasms. Semin Hematol. 2017;54:81-86 pubmed publisher
    ..Recurrent somatic lesions comprise monosomy 7 and trisomy 8 karyotypes and mutations in SETBP1 and ASXL1 genes...
  15. Saeidi K. Myeloproliferative neoplasms: Current molecular biology and genetics. Crit Rev Oncol Hematol. 2016;98:375-89 pubmed publisher
    ..Some other genes' location such as TET oncogene family member 2 (TET2), additional sex combs-like 1 (ASXL1), casitas B-lineage lymphoma proto-oncogene (CBL), isocitrate dehydrogenase 1/2 (IDH1/IDH2), IKAROS family zinc ..
  16. Barbui T, Tefferi A, Vannucchi A, Passamonti F, Silver R, Hoffman R, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet. Leukemia. 2018;32:1057-1069 pubmed publisher
    ..vera (PV), according to the revised WHO criteria; the search for complementary clonal markers, such as ASXL1, EZH2, IDH1/IDH2, and SRSF2 for the diagnosis of myelofibrosis (MF) in patients who test negative for JAK2V617, ..
  17. Thol F, Heuser M, Ganser A. [Myelodysplastic syndromes]. Internist (Berl). 2015;56:364-73 pubmed publisher
    ..Genes of the splicing machinery as well as genes involved in epigenetic regulation (e.g. ASXL1 and TET2) are most frequently mutated in MDS. Therapy is selected based on the patient risk profile (IPSS)...
  18. Ustun C, Arock M, Kluin Nelemans H, Reiter A, Sperr W, George T, et al. Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. Haematologica. 2016;101:1133-1143 pubmed
    ..These include TET2, SRSF2, ASXL1, RUNX1, JAK2, and/or RAS mutations, which may adversely impact prognosis and survival in particular systemic ..
  19. Dey N, Krie A, Klein J, Williams K, McMillan A, Elsey R, et al. Down's Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship. Int J Mol Sci. 2017;18: pubmed publisher
    ..The VUS (Variance of Unknown Significance) alteration(s) were identified in ASXL1 (L1395V), NTRK1 (G18E), DDR2 (I159T), RUNX1 (amplification), ERG (amplification), <..
  20. Jhanwar S. Genetic and epigenetic pathways in myelodysplastic syndromes: A brief overview. Adv Biol Regul. 2015;58:28-37 pubmed publisher
    ..include RNA splicing (SF3B1,SRSF2,U2F1,ZRSR2), DNA methylation (TET2,DNMT3A,IDH1/IDH2), chromatin modification (ASXL1,EZH2), transcription regulation (RUNX1,BCOR) and DNA repair control p53...
  21. Barosi G, Massa M, Campanelli R, Fois G, Catarsi P, Viarengo G, et al. Primary myelofibrosis: Older age and high JAK2V617F allele burden are associated with elevated plasma high-sensitivity C-reactive protein levels and a phenotype of progressive disease. Leuk Res. 2017;60:18-23 pubmed publisher
    ..Neither ASXL1 or EZH2 sub-clonal mutations, nor JAK2 46/1 haplotype or the A3669G polymorphism of glucocorticoid receptor were ..
  22. Vatsayan A, Talati R, Nagle K, Cabral L, Cammock S, Dimarino A, et al. Complete Resolution of Lymphoid Interstitial Pneumonia in a Patient With Juvenile Myelomonocytic Leukemia Treated With Allogeneic Bone Marrow Transplant: Killing 2 Birds With 1 Stone. J Pediatr Hematol Oncol. 2017;: pubmed publisher
    ..JMML) who was found to have a novel germline mutation of unknown significance in additional sex combs-like-1 (ASXL1) gene and a pathogenic somatic mutation of protein tyrosine phosphatase, nonreceptor type 11 (PTPN11) gene at ..
  23. Zahid M, Patnaik M, Gangat N, Hashmi S, Rizzieri D. Insight into the molecular pathophysiology of myelodysplastic syndromes: targets for novel therapy. Eur J Haematol. 2016;97:313-20 pubmed publisher
    ..ZRSR2, and U2AF1 genes), mutations in genes disrupting the epigenetic machinery (TET2, DNMT3A, DNMT3B, EZH2, ASXL1)...
  24. Zollino M, Lattante S, Orteschi D, Frangella S, Doronzio P, Contaldo I, et al. Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. Front Neurosci. 2017;11:587 pubmed publisher
    ..trigonocephaly in Bohring-Opitz syndrome reflects specific molecular properties of the chromatin modifier ASXL1 gene...
  25. Dolatshad H, Pellagatti A, Fernandez Mercado M, Yip B, Malcovati L, Attwood M, et al. Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells. Leukemia. 2015;29:1092-103 pubmed publisher
    ..exon level in SF3B1 mutant compared with wild-type cases include genes that are involved in MDS pathogenesis (ASXL1 and CBL), iron homeostasis and mitochondrial metabolism (ALAS2, ABCB7 and SLC25A37) and RNA splicing/processing (..
  26. Zhou A, Oh S. Prognostication in MF: from CBC to cytogenetics to molecular markers. Best Pract Res Clin Haematol. 2014;27:155-64 pubmed publisher
    ..Cytogenetic abnormalities and molecular markers such as JAK2 V617F, ASXL1, and CALR mutations have also been identified as prognostic variables...
  27. Maxson J, Tyner J. Genomics of chronic neutrophilic leukemia. Blood. 2017;129:715-722 pubmed publisher
    ..in SETBP1, spliceosome proteins (SRSF2, U2AF1), and epigenetic modifiers (TET2, ASXL1)...
  28. Gill H, Leung A, Kwong Y. Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy. Int J Mol Sci. 2016;17:440 pubmed publisher
    ..in MDS is shaped by gene aberrations involved in DNA methylation (TET2, DNMT3A, IDH1/2), histone modification (ASXL1, EZH2), the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1/2), transcription (RUNX1, TP53, BCOR, PHF6, NCOR, ..
  29. Machida Y, Machida Y, Vashisht A, Wohlschlegel J, Dutta A. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. J Biol Chem. 2009;284:34179-88 pubmed publisher
    ..These results suggest that BAP1 regulates cell proliferation by deubiquitinating HCF-1. ..
  30. Eriksson A, Lennartsson A, Lehmann S. Epigenetic aberrations in acute myeloid leukemia: Early key events during leukemogenesis. Exp Hematol. 2015;43:609-24 pubmed publisher
    ..In addition, mutations in epigenetic regulators such as DNMT3A, TET2, and ASXL1 have recently been found to be the earliest known events during AML evolution and to be present as preleukemic ..
  31. Hou H, Liu C, Kuo Y, Chou W, Tsai C, Lin C, et al. Splicing factor mutations predict poor prognosis in patients with de novo acute myeloid leukemia. Oncotarget. 2016;7:9084-101 pubmed publisher
    ..2% of those with intermediate-risk cytogenetics. SF mutations were closely associated with RUNX1, ASXL1, IDH2 and TET2 mutations...
  32. Elena C, Galli A, Such E, Meggendorfer M, Germing U, Rizzo E, et al. Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia. Blood. 2016;128:1408-17 pubmed publisher
    ..on multivariable Cox regression analyses, cytogenetic abnormalities and mutations in RUNX1, NRAS, SETBP1, and ASXL1 were independently associated with overall survival (OS)...
  33. Rinke J, Muller J, Blaess M, Chase A, Meggendorfer M, Schafer V, et al. Molecular characterization of EZH2 mutant patients with myelodysplastic/myeloproliferative neoplasms. Leukemia. 2017;31:1936-1943 pubmed publisher
    ..EZH2 mutations frequently co-occur with TET2 (58%), RUNX1 (40%) and ASXL1 (34%) mutations...
  34. Kim T, Tyndel M, Zhang Z, Ahn J, Choi S, Szardenings M, et al. Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. Leuk Res. 2017;59:142-148 pubmed publisher
    ..In 6 patients, we detected mutations in 6 genes commonly mutated in other myeloid neoplasms: ABL1, ASXL1, DNMT3A, IDH1, SETBP1, and TP63...
  35. Rothenberg Thurley M, Amler S, Goerlich D, Köhnke T, Konstandin N, Schneider S, et al. Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia. Leukemia. 2018;32:1598-1608 pubmed publisher
    ..was most frequent in DNMT3A (65% of patients with mutations at diagnosis), SRSF2 (64%), TET2 (55%), and ASXL1 (46%), and significantly associated with older age (p < 0...
  36. Huang J, Ge M, Lu S, Shi J, Li X, Zhang J, et al. Mutations of ASXL1 and TET2 in aplastic anemia. Haematologica. 2015;100:e172-5 pubmed publisher
  37. Russell B, Johnston J, Biesecker L, Kramer N, Pickart A, Rhead W, et al. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet A. 2015;167A:2122-31 pubmed publisher
    ..Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed ..
  38. Wu X, Bekker Jensen I, Christensen J, Rasmussen K, Sidoli S, Qi Y, et al. Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals. Cell Res. 2015;25:1205-18 pubmed publisher
    b>ASXL1 mutations are frequently found in hematological tumors, and loss of Asxl1 promotes myeloid transformation in mice...
  39. Patnaik M, Barraco D, Lasho T, Finke C, Hanson C, Ketterling R, et al. DNMT3A mutations are associated with inferior overall and leukemia-free survival in chronic myelomonocytic leukemia. Am J Hematol. 2017;92:56-61 pubmed publisher
    ..31%) patients had an abnormal karyotype whereas concurrent gene mutations (SF3B1/SRSF2/U2AF1-56%, TET2-50%, and ASXL1-25%) were seen in all patients. Apart from a higher frequency of SF3B1 (P = 0.0001) and PTPN11 (P = 0...
  40. Patel B, Przychodzen B, Thota S, Radivoyevitch T, Visconte V, Kuzmanovic T, et al. Genomic determinants of chronic myelomonocytic leukemia. Leukemia. 2017;31:2815-2823 pubmed publisher
    ..While most CMML patients (59%) had ancestral (dominant/co-dominant) mutations involving TET2, SRSF2 or ASXL1 genes, secondary subclonal hierarchy correlated with clinical phenotypes or outcomes...
  41. Hsu Y, Chiu Y, Lin C, Kuo Y, Hou H, Tzeng Y, et al. The distinct biological implications of Asxl1 mutation and its roles in leukemogenesis revealed by a knock-in mouse model. J Hematol Oncol. 2017;10:139 pubmed publisher
    Additional sex combs-like 1 (ASXL1) is frequently mutated in myeloid malignancies. Recent studies showed that hematopoietic-specific deletion of Asxl1 or overexpression of mutant ASXL1 resulted in myelodysplasia-like disease in mice...
  42. Yang H, Kurtenbach S, Guo Y, Lohse I, Durante M, Li J, et al. Gain-of-function of ASXL1 truncating protein in the pathogenesis of myeloid malignancies. Blood. 2017;: pubmed publisher
    Additional Sex Combs-Like 1 (ASXL1) is mutated at a high frequency in all forms of myeloid malignancies associated with poor prognosis...
  43. Inoue D, Kitaura J, Matsui H, Hou H, Chou W, Nagamachi A, et al. SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. Leukemia. 2015;29:847-57 pubmed publisher
    Mutations in ASXL1 are frequent in patients with myelodysplastic syndrome (MDS) and are associated with adverse survival, yet the molecular pathogenesis of ASXL1 mutations (ASXL1-MT) is not fully understood...
  44. Macedo L, Silvestre A, Rodrigues C, de Alencar J, Zacarias J, Ambrosio Albuquerque E, et al. Genetics factors associated with myelodysplastic syndromes. Blood Cells Mol Dis. 2015;55:76-81 pubmed publisher
    ..The recent recognition that genes involved in the regulation of histone function (EZH2, ASXL1, and UTX) and DNA methylation (DNMT3A, IDH1/IDH2, and TET2) are frequently mutated in MDS, has led to the proposal ..
  45. Carlston C, O Donnell Luria A, Underhill H, Cummings B, Weisburd B, Minikel E, et al. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum Mutat. 2017;38:517-523 pubmed publisher
    ..female patient with seizures, developmental delay, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS)...
  46. Sloma I, Mitjavila Garcia M, Feraud O, Griscelli F, Oudrhiri N, El Marsafy S, et al. Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia. Exp Hematol. 2017;53:48-58 pubmed publisher
    ..WGS revealed that the diagnostic cells also contained mutations in ASXL1, SEC23B, MAD1L1, and RREB1 as well as 12,000 additional uncommon DNA variants...
  47. Meggendorfer M, Haferlach C, Kern W, Haferlach T. Molecular analysis of myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5 reveals a specific spectrum of molecular mutations with prognostic impact: a study on 123 patients and 27 genes. Haematologica. 2017;102:1502-1510 pubmed publisher
    ..Only seven genes showed mutation frequencies >5% (SF3B1, DNMT3A, TP53, TET2, CSNK1A1, ASXL1, JAK2)...
  48. Tefferi A, Vannucchi A. Genetic Risk Assessment in Myeloproliferative Neoplasms. Mayo Clin Proc. 2017;92:1283-1290 pubmed publisher
    ..b>ASXL1 and SRSF2 mutations have been associated with inferior overall, leukemia-free, or fibrosis-free survival in both ..
  49. Salit R, Deeg H. Transplant Decisions in Patients with Myelofibrosis: Should Mutations Be the Judge?. Biol Blood Marrow Transplant. 2018;24:649-658 pubmed publisher
    ..studies have identified "driver mutations" in JAK2, MPL1, and CALR and additional somatic DNA mutations, including ASXL1, EZH2, IDH1/2, and SRSF2, that affect prognosis differentially...
  50. Li M, Gao L, Li Z, Sun J, Zhang H, Duan H, et al. CTNNA1 hypermethylation, a frequent event in acute myeloid leukemia, is independently associated with an adverse outcome. Oncotarget. 2016;7:31454-65 pubmed publisher
    ..promoter was associated with unfavorable karyotype, and also possessed the higher frequency of coexisting with ASXL1 and RUNX1 mutations...
  51. Koh W, Gonzalez V, Natarajan S, Carter R, Brown P, Gawad C. Dynamic ASXL1 Exon Skipping and Alternative Circular Splicing in Single Human Cells. PLoS ONE. 2016;11:e0164085 pubmed publisher
    ..a combination of targeted deletion, high-resolution splicing detection, and single-cell sequencing to deeply probe ASXL1 circular splicing...
  52. Lin P, Li H, Fan S, Yuan T, Chen M, Hsu Y, et al. A targeted next-generation sequencing in the molecular risk stratification of adult acute myeloid leukemia: implications for clinical practice. Cancer Med. 2017;6:349-360 pubmed publisher
    ..Overall survival (OS), similar to those with favorable-risk cytogenetics; patients with mutations in TET2, RUNX1, ASXL1, and DNMT3A were associated with reduced OS, similar to those with unfavorable-risk cytogenetics...
  53. Dinan A, Atkins J, Firth A. ASXL gain-of-function truncation mutants: defective and dysregulated forms of a natural ribosomal frameshifting product?. Biol Direct. 2017;12:24 pubmed publisher
    ..Here we describe an ~150-codon overlapping ORF (termed TF) in ASXL1 and ASXL2 that, with few exceptions, is conserved throughout vertebrates...
  54. Huang J, Ge M, Lu S, Shi J, Li X, Wang M, et al. ASXL1 single nucleotide polymorphisms rs62206933, rs117901891, and rs74638057 identify a subgroup of acquired aplastic anemia in Chinese Han patients. Int J Lab Hematol. 2015;37:e163-7 pubmed publisher
  55. Magor G, Tallack M, Klose N, Taylor D, Korbie D, Mollee P, et al. Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation. J Mol Diagn. 2016;18:707-718 pubmed publisher
    ..Our assay reliably detects well characterized mutations in JAK2, CALR, and MPL, but also rarer mutations in ASXL1, TET2, SH2B3, and other genes. Some of these mutations are novel...
  56. Nielsen H, Andersen C, Westman M, Kristensen L, Asmar F, Kruse T, et al. Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations. Sci Rep. 2017;7:6774 pubmed publisher
    ..Mutations in the epigenetic regulators ASXL1 (47%) and TET2 (20%) were not associated with a specific DNA methylation pattern using an unsupervised approach...
  57. Lee S, Chiu Y, Li Y, Lin C, Hou H, Chou W, et al. High expression of dedicator of cytokinesis 1 (DOCK1) confers poor prognosis in acute myeloid leukemia. Oncotarget. 2017;8:72250-72259 pubmed publisher
    ..cytogenetics, FLT3-ITD, MLL-PTD and mutations in PTPN11, NPM1, RUNX1, ASXL1 and DNMT3A...
  58. Ganguly B, Kadam N. Mutations of myelodysplastic syndromes (MDS): An update. Mutat Res Rev Mutat Res. 2016;769:47-62 pubmed publisher
    ..machinery (SF3B1, SRSF2, ZRSR2, U2AF1, U2AF2); DNA methylation (TET2, DNMT3A, IDH1/2); chromatin modification (ASXL1, EZH2); transcription factor (TP53, RUNX1); signal transduction/kinases (FLT3, JAK2); RAS pathway (KRAS, NRAS, CBL,..
  59. Togasaki E, Takeda J, Yoshida K, Shiozawa Y, Takeuchi M, Oshima M, et al. Frequent somatic mutations in epigenetic regulators in newly diagnosed chronic myeloid leukemia. Blood Cancer J. 2017;7:e559 pubmed publisher
    ..0381). Mutations in epigenetic regulator, ASXL1, TET2, TET3, KDM1A and MSH6 were found in 25% of patients...
  60. Nagata Y, Ogawa S. A novel prognostic model incorporating genetic profiling for myelodysplastic syndromes. Rinsho Ketsueki. 2017;58:776-786 pubmed publisher
    ..In total, 47 genes were significantly mutated, with TET2, SF3B1, ASXL1, SRSF2, DNMT3A, and RUNX1 mutated in >10% of the patients...
  61. Tomizawa D. Acute leukemia in adolescents and young adults. Rinsho Ketsueki. 2017;58:2160-2167 pubmed publisher
    ..in DUX4, ERG, MEF2D, and ZNF384 genes in AYAs with ALL and higher frequency of FLT3-ITD, NPM1, IDH1/2, DNMT3A, ASXL1, TET2, and CEBPA mutations in AYAs with AML than that in children...
  62. Bu J, Chen A, Yan X, He F, Dong Y, Zhou Y, et al. SETD2-mediated crosstalk between H3K36me3 and H3K79me2 in MLL-rearranged leukemia. Leukemia. 2017;: pubmed publisher
    ..with transcriptional deregulation of a novel set of genes; downregulating tumor suppressors (for example, ASXL1) and upregulating oncogenes (for example, ERG)...
  63. Paschka P, Schlenk R, Gaidzik V, Herzig J, Aulitzky T, Bullinger L, et al. ASXL1 mutations in younger adult patients with acute myeloid leukemia: a study by the German-Austrian Acute Myeloid Leukemia Study Group. Haematologica. 2015;100:324-30 pubmed publisher
    We studied 1696 patients (18 to 61 years) with acute myeloid leukemia for ASXL1 mutations and identified these mutations in 103 (6.1%) patients. ASXL1 mutations were associated with older age (P<0.0001), male sex (P=0...
  64. Devillier R, Mansat De Mas V, Gelsi Boyer V, Demur C, Murati A, Corre J, 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
    ..The goal of this study was to identify distinct biological and prognostic subgroups based on mutations of ASXL1, RUNX1, DNMT3A, NPM1, FLT3 and TP53 in 125 AML-MRC patients according to the presence of MLD, cytogenetics and ..
  65. Shashi V, Pena L, Kim K, Burton B, Hempel M, Schoch K, et al. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016;99:991-999 pubmed publisher
    The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci...
  66. Ricci C, Spinelli O, Salmoiraghi S, Finazzi G, Carobbio A, Rambaldi A. ASXL1 mutations in primary and secondary myelofibrosis. Br J Haematol. 2012;156:404-7 pubmed publisher
  67. Schnittger S, Eder C, Jeromin S, Alpermann T, Fasan A, Grossmann V, 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 publisher
    ..myelodysplastic syndromes, and with a more immature immunophenotype compared with patients with wild-type ASXL1 (ASXL1wt). ASXL1mut were more frequent in patients with aberrant karyotype (58/187; 31...
  68. Wang J, Ai X, Gale R, Xu Z, Qin T, Fang L, et al. TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes. Leuk Res. 2013;37:305-11 pubmed publisher
    ..We studied mutations in TET2, ASXL1 and EZH2 in 153 Chinese patients with MDS...
  69. Rothenberg Thurley M, Amler S, Goerlich D, Köhnke T, Konstandin N, Schneider S, et al. Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia. Leukemia. 2017;: pubmed publisher
    ..was most frequent in DNMT3A (65% of patients with mutations at diagnosis), SRSF2 (64%), TET2 (55%), and ASXL1 (46%), and significantly associated with older age (P<0...
  70. Abdel Wahab O, Kilpivaara O, Patel J, Busque L, Levine R. The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration. Leukemia. 2010;24:1656-7 pubmed publisher
  71. Sorigué M, Ribera J, García O, Cabezón M, Vélez P, Marcé S, et al. Highly variable mutational profile of ASXL1 in myelofibrosis. Eur J Haematol. 2016;97:331-5 pubmed publisher
    Somatic mutations in ASXL1 seem to have a negative prognostic impact in patients with several myeloid neoplasms, including myelofibrosis (MF). The aim of this work was to determine the prevalence and profile of ASXL1 mutations in MF...
  72. Zhang P, Xing C, Rhodes S, He Y, Deng K, Li Z, et al. Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice. Stem Cell Reports. 2016;6:914-925 pubmed publisher
    De novo ASXL1 mutations are found in patients with Bohring-Opitz syndrome, a disease with severe developmental defects and early childhood mortality. The underlying pathologic mechanisms remain largely unknown...
  73. Valikhani A, Poopak B, Ferdowsi S, Azizi Tabesh G, Ghaffari S, Saraf Kazeruoni E, et al. ASXL1 and JAK2V617F gene mutation screening in Iranian patients with chronic myeloid leukemia. Asia Pac J Clin Oncol. 2017;13:e41-e47 pubmed publisher
    ..Moreover, mutations in the additional sex comb-like 1 (ASXL1) gene were recently shown in various myeloid malignancies...
  74. Khan M, Cortes J, Kadia T, Naqvi K, Brandt M, Pierce S, et al. Clinical Outcomes and Co-Occurring Mutations in Patients with RUNX1-Mutated Acute Myeloid Leukemia. Int J Mol Sci. 2017;18: pubmed publisher
    ..02) and higher platelet count (p = 0.012) overall. Identified co-occurring mutations were primarily ASXL1 mutations in older patients and RAS mutations in younger patients; FLT3-ITD and IDH1/2 co-mutations ..
  75. Bott M, Brevet M, Taylor B, Shimizu S, Ito T, Wang L, et al. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. Nat Genet. 2011;43:668-72 pubmed publisher
    ..The BAP1 nuclear deubiquitinase is known to target histones (together with ASXL1 as a Polycomb repressor subunit) and the HCF1 transcriptional co-factor, and we show that BAP1 knockdown in MPM ..
  76. Patnaik M, Itzykson R, Lasho T, Kosmider O, Finke C, Hanson C, 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 pubmed publisher
    In a cohort of 466 patients, we sought to clarify the prognostic relevance of ASXL1 and SETBP1 mutations, among others, in World Health Organization-defined chronic myelomonocytic leukemia (CMML) and its added value to the Mayo ..
  77. Meggendorfer M, Haferlach T, Alpermann T, Jeromin S, Haferlach C, Kern W, et al. Specific molecular mutation patterns delineate chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia. Haematologica. 2014;99:e244-6 pubmed publisher
  78. Abdel Wahab O. Genetics of the myeloproliferative neoplasms. Curr Opin Hematol. 2011;18:117-23 pubmed publisher
    ..to affect the epigenome of MPN patients have been discovered including mutations in TET2, IDH1/ 2, EZH2, and ASXL1. Lastly, some insights into the genetic events which contribute to transformation of a chronic MPN phenotype to ..
  79. Martínez Avilés L, Besses C, Alvarez Larran A, Torres E, Serrano S, Bellosillo B. TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms. Ann Hematol. 2012;91:533-41 pubmed publisher
    Mutations in the TET2 and ASXL1 genes have been described in approximately 14% and 8% of patients, respectively, with classic myeloproliferative neoplasms (MPN), but their role as possible new diagnostic molecular markers is still ..
  80. Senín A, Fernández Rodríguez C, Bellosillo B, Camacho L, Longarón R, Angona A, et al. Non-driver mutations in patients with JAK2V617F-mutated polycythemia vera or essential thrombocythemia with long-term molecular follow-up. Ann Hematol. 2018;97:443-451 pubmed publisher
    ..2, 95% CI 2.6-57.1, p?=?0.001) with mutations in ASXL1 (p?<?0.0001), TP53 (p?=?0.01), SRSF2 (p?<?0.0001), IDH1/2 (p?<?0.0001), and RUNX1 (p?<?0...
  81. Zhou A, Afzal A, Oh S. Prognostication in Philadelphia Chromosome Negative Myeloproliferative Neoplasms: a Review of the Recent Literature. Curr Hematol Malig Rep. 2017;12:397-405 pubmed publisher
    ..abnormal karyotype, phlebotomy requirement on hydroxyurea, increased bone marrow fibrosis, and mutations in ASXL1, SRSF2, and IDH2 were identified as additional adverse prognostic factors...
  82. Guglielmelli P, Lasho T, Rotunno G, Mudireddy M, Mannarelli C, Nicolosi M, et al. MIPSS70: Mutation-Enhanced International Prognostic Score System for Transplantation-Age Patients With Primary Myelofibrosis. J Clin Oncol. 2017;:JCO2017764886 pubmed publisher
    ..grade ? 2, constitutional symptoms, absence of CALR type-1 mutation, presence of high-molecular risk mutation (ie, ASXL1, EZH2, SRSF2, IDH1/ 2), and presence of two or more high-molecular risk mutations...
  83. Bodor C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, et al. Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica. 2012;97:890-4 pubmed publisher
    ..They were also observed to have acquired identical somatic ASXL1 mutations and both died despite stem cell transplantation...
  84. El Sharkawi D, Ali A, Evans C, Hills R, Burnett A, Linch D, et al. ASXL1 mutations are infrequent in young patients with primary acute myeloid leukemia and their detection has a limited role in therapeutic risk stratification. Leuk Lymphoma. 2014;55:1326-31 pubmed publisher
    b>ASXL1 mutations are recurrent in acute myeloid leukemia (AML), but it is unclear whether ASXL1 genotype might influence patient management...
  85. Urreizti R, Roca Ayats N, Trepat J, Garcia Garcia F, Alemán A, Orteschi D, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A:24-31 pubmed publisher
    ..Whereas CD96 has been related to OTCS (one case) and to BOS (one case), ASXL1 has been related to BOS only (several cases)...
  86. Jawhar M, Schwaab J, Hausmann D, Clemens J, Naumann N, Henzler T, et al. Splenomegaly, elevated alkaline phosphatase and mutations in the SRSF2/ASXL1/RUNX1 gene panel are strong adverse prognostic markers in patients with systemic mastocytosis. Leukemia. 2016;30:2342-2350 pubmed publisher
    ..data (n=60), univariate analysis identified splenomegaly ?1200?ml, elevated AP and mutations in the SRSF2/ASXL1/RUNX1 (S/A/R) gene panel as significant prognostic markers. In multivariate analysis, mutations in S/A/R (HR 3...
  87. Gadd S, Huff V, Walz A, Ooms A, Armstrong A, Gerhard D, et al. A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. Nat Genet. 2017;49:1487-1494 pubmed publisher
    ..recognized as recurrently involved in Wilms tumors, the most frequent being BCOR, BCORL1, NONO, MAX, COL6A3, ASXL1, MAP3K4, and ARID1A...
  88. Daou S, Hammond Martel I, Mashtalir N, Barbour H, Gagnon J, Iannantuono N, et al. The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer. J Biol Chem. 2015;290:28643-63 pubmed publisher
    ..Here, we report that BAP1 forms two mutually exclusive complexes with the transcriptional regulators ASXL1 and ASXL2, which are necessary for maintaining proper protein levels of this DUB...
  89. Pardanani A, Lasho T, Finke C, Zblewski D, Abdelrahman R, Wassie E, et al. ASXL1 and CBL mutations are independently predictive of inferior survival in advanced systemic mastocytosis. Br J Haematol. 2016;175:534-536 pubmed publisher
  90. Azuma K, Umezu T, Imanishi S, Asano M, Yoshizawa S, Katagiri S, et al. Genetic variations of bone marrow mesenchymal stromal cells derived from acute leukemia and myelodysplastic syndrome by targeted deep sequencing. Leuk Res. 2017;62:23-28 pubmed publisher
    ..We found several non-synonymous genetic variants overlapping BM cells and MSCs, including TP53 and ASXL1, partially owing to the heterogenous cell fraction of MSC samples and lineage fidelity...
  91. Gelsi Boyer V, Cervera N, Bertucci F, Brecqueville M, Finetti P, Murati A, et al. Molecular similarity between myelodysplastic form of chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts. Haematologica. 2013;98:576-83 pubmed publisher
    ..chronic myelomonocytic leukemias are characterized by mutations in transcription/epigenetic regulators (ASXL1, RUNX1, TET2) and splicing genes (SRSF2) and the absence of mutations in signaling genes...
  92. Alpermann T, Haferlach C, Eder C, Nadarajah N, Meggendorfer M, Kern W, et al. AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is associated with a specific molecular mutation pattern including ASXL1 mutations in 46.8% of the patients. Leuk Res. 2015;39:265-72 pubmed publisher
    ..8sole patients were older (p=0.013), presented lower WBC counts (p=0.010), harbored more often ASXL1 mutations (p<0.001) and RUNX1 mutations (p=0.009), but less frequent FLT3-ITD (p=0.038), NPM1 mutations (p<0...