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
- 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 - : Acute myeloid leukemia (AML) with myelodysplasia-related gene mutations (AML-MR), often referred to as secondary AML (s-AML) or AML-MRC, is an aggressive form of leukemia that typically arises from an antecedent myelodysplastic syndrome (MDS) but may also originate de novo. It is characterized by mutations in key genes associated with MDS that include some epigenetic regulators ( and ), splicing factors (, , , and ), and transcription factors (, , and ). The main objective of this review paper consists of analyzing recent studies that have improved the criteria for the characterization, definition, and classification of AML-MR. : An extensive search of the most recent literature on the topic was performed, selecting and critically analyzing the most relevant studies. . The studies carried out in the last few years have provided an extensive molecular characterization of AML-MR, supporting sounder criteria for identification and a better definition with respect to other AML subtypes, particularly with respect to -mutant AML. : A unifying classification of AML-MR is now possible, allowing its identification as a unique, well-defined, and separate entity. - Source: PubMed
Publication date: 2026/07/30
Testa Ugo - is a common co-mutation characterized by monocytosis across many myeloid neoplasms, including CMML. Myelodysplasia-related gene (MRG) mutations, including , , , , , , , and , are key contributors to leukemic transformation, though their interactions with other mutations are understudied. In this retrospective cohort study, we examined the clinical and prognostic impact of additional mutated MRGs in 412 patients with / co-mutated neoplasms, identified from the Moffitt Next Gen Sequencing Database. The majority of patients (55%) had at least one additional MRG mutation, which was associated with decreased monocytosis, increased anemia, and poorer overall survival (10.941 vs. 23.787 months, < 0.001). was the most common MRG mutation and independently predicted worse survival. Patients with additional MRGs were more likely to have AML arising from CMML (12.3% vs 5.9%, = 0.029). These findings may be used in future clinical practice to provide better prognosis and treatment stratification. - Source: PubMed
Publication date: 2026/08/12
Martin MichaelCockey Samuel GJajoo VeenaShebes MacZhang HailingWang LeMoscinski LynnLi JulieCoughlin EmilyMhaskar RahulSong Jinming - Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive precursor cell hematological malignancy with a dismal prognosis, necessitating prompt and accurate diagnosis. However, its blastoid morphology and immunophenotype may lead to diagnostic confusion with a broad spectrum of hematological neoplasms. This systematic review delineates the critical morphological, immunophenotypic, and molecular features required to distinguish BPDCN from its mimics across common sites of involvement (skin, bone marrow, and lymph nodes). We reinforce the diagnostic criteria for BPDCN and provide an in-depth analysis of its differential diagnosis, structuring it into two groups: (A) hematological neoplasms with blastoid morphology (e.g., ALL/LBL, blastoid MCL, AML, myeloid sarcoma), and (B) myeloid malignancies with pDC-associated markers (e.g., AML with pDC-like phenotype, AML with pDC expansion, mature pDC proliferation). We emphasize the integration of immature and lineage-specific markers, and molecular data (e.g., ZRSR2, MYB/MYBL1, NPM1, FLT3, RUNX1, DNMT3, CCND1 status) to resolve diagnostic dilemmas. The aim is to provide a comprehensive diagnostic review and guide to standardize the workup and facilitate the early initiation of appropriate treatment for this challenging disease. - Source: PubMed
Publication date: 2026/08/07
Giudice GabrieleBerti EmilioTzankov AlexandarBonometti Arturo - Triple-negative essential thrombocythemia (TN-ET) represents a diagnostic and therapeutic challenge. The aim of the present study was to identify prognostic factors useful for tailoring treatment. 241 TN-ET patients with myeloid panel sequencing and confirmatory bone marrow biopsy were selected. Pathogenic/likely pathogenic variants were identified in 19.5% of patients. Mutation carriers were older (median age 66 years vs. 53, p < 0.001) and had a higher frequency of prior thrombosis (19.6% vs. 6.5%, p = 0.013). Presence of pathogenic/likely pathogenic variants was associated with leukemic progression (HR 12.608; 95% CI: 2.616-60.775, p = 0.002) and lower overall survival (HR 3.008; 95% CI: 1.43-6.327, p = 0.004). ASXL1 (p = 0.004), CBL (p < 0.001), EZH2 (p < 0.001), and ZRSR2 (p < 0.001) mutations were associated with inferior leukemia-free survival. Age over 60 years, previous thrombosis, and cardiovascular risk factors were associated with higher thrombotic risk. Revised IPSET-thrombosis was useful for risk stratification (10-year probability of overall thrombosis: 30%, 15%, and 6% for high-, intermediate-, and very-low risk patients, respectively, p < 0.001). ARTS score refined arterial thrombosis stratification (10 years probability: 25% and 6% for high- and low-risk, respectively, p < 0.001). Progression to myelofibrosis was a rare event in this cohort (2.5%). These results highlight the biological and prognostic relevance of molecular profile in TN-ET. - Source: PubMed
Publication date: 2026/07/13
Carreño-Tarragona GonzaloGil-Manso RodrigoHernández-Boluda Juan CarlosMartínez-Ávila José CarlosBellosillo BeatrizPérez-López RaúlSegura AdriánFerrer-Marín FranciscaArellano-Rodrigo EduardoAngona AnnaGarcía-Gutiérrez ValentínNoya María SoledadBlanco ÁngelaZamora LurdesNavarro MiguelSenín AliciaMagro ElenaPastor-Galán IreneMata-Vázquez María IsabelMorales María LuzCuevas BeatrizVélez PatriciaMora ElviraMartínez-Bilbao CristinaColmenares RafaelAlonso Juan ManuelPérez-Encinas ManuelCaballero-Navarro GonzaloCortés Miguel ÁngelSantaliestra MartaRaya José MaríaBlanco-Sánchez AlbertoHernández-Rivas Jesús MaríaMartínez-López JoaquínAyala RosaÁlvarez-Larrán Alberto