Ask about this productRelated genes to: ASXL1 antibody
- Gene:
- ASXL1 NIH gene
- Name:
- ASXL transcriptional regulator 1
- Previous symbol:
- -
- Synonyms:
- KIAA0978
- Chromosome:
- 20q11.21
- Locus Type:
- gene with protein product
- Date approved:
- 2002-03-06
- Date modifiied:
- 2019-04-23
Related products to: ASXL1 antibody
Related articles to: ASXL1 antibody
- Venetoclax (Ven) plus hypomethylating agents (HMA) is standard frontline therapy for newly diagnosed AML (ND-AML) patients unfit for intensive chemotherapy and is also considered in younger, fit patients. However, consolidation with allogeneic stem cell transplant (ASCT) is often required to secure durable remission. The current study examines posttransplant outcomes in patients with ND-AML treated with frontline Ven-HMA who subsequently underwent ASCT. A total of 111 ND-AML patients (58% male, 60% secondary/therapy-related, median age 70 years [range, 37-80]) received a median of 3 cycles of Ven-HMA. Mutations at the time of diagnosis included RUNX1 (18%), SRSF2 (17%), TP53 (16%), ASXL1, IDH2, K/NRAS, TET2 (14% each), STAG2 (11%), DNMT3A (8%). All patients were in CR/CRi at the time of transplant including 88% after Ven-HMA. Measurable residual disease (MRD) by flow cytometry was detectable in 18/76 (24%) patients. Donors were mostly HLA-matched unrelated (75%); 51% receiving fludarabine/melphalan conditioning and 67% posttransplant cyclophosphamide. At a median follow-up of 15 months, 42 (38%) of patients have died and 18 (16%) experienced posttransplant relapse. Median posttransplant survival was not reached (NR), with 1-, 2-, 3-year survival rates of 69%/60%/57%, respectively. On multivariate analysis, age ≥ 65 years, STAG2 mutation (STAG2), and DNMT3A were associated with superior posttransplant survival. Patients were stratified into low- (0-1 point), intermediate- (2 points), and high-risk (3 points); age < 65 years, STAG2 wild type, and DNMT3A wild type, with 3-year survival rates of 89%, 59%, and 19%, respectively (p < 0.01). Taken together, age, STAG2 and DNMT3A stratified posttransplant survival in Ven-HMA treated patients with ND-AML. - Source: PubMed
Publication date: 2026/08/23
Warraich MomnaKumar SudheshFatima MahnoorMcCullough KristenAl-Kali ArefAlkhateeb Hassan BBegna Kebede HMangaonkar AbhishekSaliba Antoine NMatin AasiyaLitzow Mark RHogan WilliamShah Mithun VPatnaik Mrinal MPardanani AnimeshForan JamesSproat LisaKhera NanditaTefferi AyalewGangat Naseema - Myelodysplastic neoplasms (formerly myelodysplastic syndromes, MDS) are heterogeneous clonal haematological malignancies that primarily affect the elderly, though a notable proportion of patients are diagnosed at younger ages. We retrospectively analysed 1437 patients diagnosed or treated at Asan Medical Center between 1989 and 2022, comparing clinical and genetic characteristics by age group. Younger patients (≤50 years) demonstrated improved overall survival (OS) and leukaemia-free survival (all p < 0.001), a higher proportion of females, lower platelet levels, reduced bone marrow blasts, decreased mutation burden and lower scores on the International Prognostic Scoring System. In contrast, the response rates to hypomethylating agents did not significantly differ between age groups (p = 0.543); however, SF3B1 mutation predicted favourable therapeutic response. Mutations in ASXL1, DDX41, DNMT3A, RUNX1, SF3B1, SRSF2, TET2, TP53 and ZRSR2 occurred more frequently in older MDS patients, whereas SAMD9 mutations predominated in younger cohort. In patients undergoing allogeneic haematopoietic stem cell transplantation (HSCT), OS did not differ significantly between younger and older patients; only TP53 mutation reliably predicted inferior post-HSCT OS (hazard ratio 3.099, p = 0.003). In analyses limited to younger patients, the presence of DNMT3A, TP53 and U2AF1 mutations was associated with worse OS. These findings suggest that younger patients represent a biologically distinct subset of MDS. - Source: PubMed
Publication date: 2026/08/21
Park HyunkyungChoi Eun-JiCho Young-UkChoi YunsukPark Han-SeungLee Jung-HeeHur Joon YoungJeong JisuCha SeungahLee YueunLee Young-ShinKang Young-AhJeon MijinWoo Ji MinKang HyeranLee Je-Hwan - Myeloproliferative neoplasms (MPN) are shaped by epigenetic rewiring that extends beyond canonical JAK2V617F-driven signaling. This review argues that context-dependent chromatin states, not merely genetic lesions, determine disease trajectory, fibrotic transformation, and leukemic progression. We synthesize recent evidence indicating that PRC2 deficiency is supported by the strongest MPN-specific evidence for BRD4 dependency, whereas PARP/BCL-2 vulnerabilities associated with TET2/IDH mutations and USP7 dependency associated with ASXL1 remain supported primarily by related myeloid malignancies or preclinical studies. Introducing the concept of an "epigenetic clock" of clonal evolution, we propose that MPN cells acquire progressively pathological chromatin states that can be quantified through composite methylation and accessibility scores. Importantly, temporal synthetic lethality, using short epigenetic pulses to remodel chromatin before applying targeted agents, offers a rational scheduling strategy to expose non-redundant dependencies while sparing normal hematopoiesis. We outline a translational roadmap incorporating cfDNA methylome biomarkers, ongoing BET inhibitor trials, and emerging single-cell perturbation approaches. Finally, we highlight the "dark epigenome" of repetitive elements as an unexplored therapeutic frontier. Collectively, these findings suggest that context-restricted chromatin vulnerabilities may offer therapeutic opportunities for disease-modifying intervention in progression-prone MPN clones. - Source: PubMed
Abdelgawwad El-Sehrawy Amr Ali MohamedAl-Khreisat Mutaz JamalKubaev AzizRajapov AdilbekIsmael Sajida HusseinAlhasso BahjatKaur IrwanjotBainsal Neeraj - Acute myeloid leukemia (AML) treatment typically involves intensive chemotherapy associated with prolonged cytopenias and frequent transfusion requirements. Patients who decline blood products, such as Jehovah's Witnesses (JW), present a therapeutic challenge, as transfusion support is integral to standard care. Emerging low-intensity regimens combining venetoclax (VEN) with hypomethylating agents offer a potential alternative with reduced myelosuppression. - Source: PubMed
Publication date: 2026/07/15
Aldapt MahmoodBadar TalhaSaliba Antoine NForan JamesBianco SidneyHanratty CatherineMurthy Hemant - Cytopenia represents a distinct clinical phenotype in primary myelofibrosis (PMF), often associated with advanced disease and poor prognosis. We propose that while a common driver mutation initiates the disease, the clinical phenotype of PMF is shaped by inter-individual variability in downstream inflammatory responses, contributing to the observed heterogeneity in disease presentation. - Source: PubMed
Publication date: 2026/08/18
Lee Sze-HweiWang Yu-HungChang Yu-SungWei Chao-HungYuan Chang-TsuHou Hsin-AnChou Wen-ChienTien Hwei-FangLin Chien-Chin