Ask about this productRelated genes to: ZRSR2 antibody
- Gene:
- ZRSR2 NIH gene
- Name:
- zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
- Previous symbol:
- U2AF1L2
- Synonyms:
- U2AF1-RS2, URP, ZC3H22
- Chromosome:
- Xp22.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-09-24
- Date modifiied:
- 2019-04-23
Related products to: ZRSR2 antibody
Related articles to: ZRSR2 antibody
- Clonal cytopenia of undetermined significance (CCUS) is a premalignant condition characterized by persistent cytopenias with somatic mutations but no morphologic evidence of overt myeloid neoplasia. While CCUS confers an elevated risk of progression to myeloid malignancies, the timing and biology of this transformation remain unpredictable. We hypothesized that the type of mutated gene and tracking clonal expansion over time via serial variant allele frequency (VAF) measurements may uncover early evolutionary signatures of malignant progression. - Source: PubMed
Publication date: 2026/09/11
Sadeghian ZohreChen Mark JinanLyapichev Kirill AFu Chieh-LinChaulagain ChakraDiacovo Maria JuliaBosler David SBehdad Amir - Aberrant pre-mRNA splicing in cancer generates protein sequences that are rare or absent in normal tissues, creating a rich source of tumor-specific neoantigens for immunotherapy. These splicing-derived neoantigens arise through diverse mechanisms, including recurrent somatic mutations in core spliceosome components (, , , and ), epigenetic derepression of transposable elements that give rise to chimeric exon-TE junctions, and coordinated dysregulation of splicing regulatory networks in cancers lacking spliceosome coding mutations. These processes produce two major classes of immunotherapeutic targets: 1) MHC class I-restricted neopeptides that can be recognized by T-cell-based therapies, and 2) extracellular neoepitopes (ExNeoEpitopes) within transmembrane proteins that are accessible to HLA-independent antibody-based modalities, including monoclonal antibodies (mAbs), bispecific engagers (BiTEs), antibody-drug conjugates (ADCs), and chimeric antigen receptor (CAR)-T or CAR-NK cells. Despite their strong immunogenic potential, effective therapeutic exploitation requires overcoming key immunological barriers, including T-cell exhaustion, impaired antigen presentation through MHC-I downregulation, and suppression within the tumor microenvironment. Recent advances in computational neoantigen prediction, immunopeptidomics, surface proteomics, long-read and single-cell isoform sequencing, and AI-guided therapeutic design are enabling more systematic discovery and validation of splicing-derived targets. This review integrates current understanding of the biological origins, immunological barriers, target classes of splicing neoantigens, and the technologies that enable their advancement in cancer immunotherapy. - Source: PubMed
Publication date: 2026/08/27
Tang MutianGrimes H LeightonSalomonis Nathan - Aberrant pre-mRNA splicing is a pervasive feature of cancer and an emerging therapeutic vulnerability. Recurrent mutations in core spliceosomal components, including SF3B1, SRSF2, U2AF1, and ZRSR2, are common in myeloid malignancies, while dysregulated splicing regulators and cis-acting splice-site alterations shape cancer-relevant isoform programs across solid tumors. Together with high transcriptional output, rapid proliferation, and oncogene-driven RNA-processing demand, these alterations can reduce the capacity of cancer cells to tolerate additional splicing perturbation, creating a therapeutic window for pharmacological splicing modulation. Multiple strategies are under investigation, including SF3B complex modulators, splicing kinase inhibitors, RBM39-directed molecular glues, PRMT/arginine-methylation-directed approaches, and selected splice-switching strategies. Early clinical experience indicates that pharmacodynamic modulation of splicing is achievable in patients, yet objective clinical benefit has been inconsistent. This reflects narrow therapeutic windows, incomplete concordance between peripheral-blood pharmacodynamic markers and tumor-tissue splicing perturbation, and the limited predictive value of mutation status alone. Rational combinations with apoptosis-targeted agents, oncogene-directed therapies, DNA-damaging agents, PARP inhibitors, and immunotherapies may offer a more effective route to clinical translation than maximal single-agent splicing inhibition. Continued progress will require more selective splicing-directed modalities, pharmacodynamic biomarkers that measure splicing perturbation in the relevant tumor or blood compartment, longitudinal mapping of genetic and tumor cell-state plasticity-driven resistance, and biomarker-defined combination trials to support expansion from hematologic malignancies into solid tumors. - Source: PubMed
Publication date: 2026/09/07
Jingele XinbateSun QinxinruLi XiaoyangLi XinyuKon AyanaTao XueruiYoshimi Akihide - Low-grade osteogenic tumors in the appendicular skeleton can show overlapping radiologic and histologic features, especially when secondary aneurysmal bone cyst (ABC) change is present. Osteoblastoma (OB) with secondary ABC and low-grade osteosarcoma (LG-OS) with secondary ABC may be difficult to distinguish, and noncanonical molecular alterations such as or variants may further complicate interpretation. We present an 18-year-old male presented with 6 months of atraumatic hip/knee pain and progressive difficulty weight-bearing. Imaging demonstrated a proximal femoral intramedullary lesion with cortical thickening, impending breakthrough, and surrounding marrow/soft-tissue edema. The differential diagnosis included OB vs LG-OS. Two image-guided biopsies favored OB. The patient underwent wide resection with allograft prosthetic composite reconstruction; margins were negative, and overall pathology supported OB with secondary ABC. Recovery was uncomplicated aside from transient urinary retention. By postoperative week 8, the patient had progressed to full weight-bearing with minimal pain. CT chest demonstrated stable benign nodules under surveillance. The integrated radiologic, histologic, immunophenotypic, and molecular profile supports a low-grade osteogenic tumor with secondary ABC. - Source: PubMed
Publication date: 2026/08/22
Shabbir-Hussain RobanMalerba RominaAljohani ReemNani JuliusHussain MuhammadProca Daniela - 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