CBFA2T3 antibody - N-terminal region (ARP33993_P050)
- Known as:
- CBFA2T3 (anti-) - N-terminal region (ARP33993_P050)
- Catalog number:
- arp33993_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- CBFA2T3 antibody - N-terminal region (ARP33993_P050)
Related genes to: CBFA2T3 antibody - N-terminal region (ARP33993_P050)
- Gene:
- CBFA2T3 NIH gene
- Name:
- CBFA2/RUNX1 translocation partner 3
- Previous symbol:
- -
- Synonyms:
- MTGR2, ZMYND4, MTG16, RUNX1T3, ETO2
- Chromosome:
- 16q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-08-13
- Date modifiied:
- 2016-10-05
Related products to: CBFA2T3 antibody - N-terminal region (ARP33993_P050)
Related articles to: CBFA2T3 antibody - N-terminal region (ARP33993_P050)
- Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine-thymine-guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications. While somatic mosaicism and meiotic instability are well established, to the best of our knowledge, no study has performed a genome-wide interrogation for global inherited instability. Performing whole-genome optical mapping, with sequence base-resolved structural variant verification, we examine global inherited genomic instability in an atypical paternally transmitted DM1 family presenting with a range of neurological manifestations, including early-onset Parkinson's disease (PD). While the juvenile-onset DM1 proband presented with a 10-fold repeat expansion with associated hypermethylation, her partially hypermethylated asymptomatic protomutation father transmitted a 1.8-fold contracted allele in the younger premutation sibling. Adult-onset symptomatic DM1 and PD phenotypic paternal aunts showed significant genome-wide copy number alteration, including PD-associated chr19 aneuploidy loss, with additional losses on chr16, 17, and 22. In the absence of potentially pathogenic de novo or maternally inherited structural variants, the proband presented with large paternally inherited aberrations impacting gene candidates CASC15, CBFA2T3, GPHN, H3F3A, SDK1, and SPAG16, with advanced global hypomethylation. Here we suggest that inherited genomic instability may contribute to phenotypic variability, including multi-neurological presentations and single-generation repeat expansion or contraction. By providing a landscape of inherited large structural variants, this single-family study expands knowledge of this broad and growing class of diseases. © 2026 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland. - Source: PubMed
Publication date: 2026/06/09
Hasan Md MehediCraddock JennaGong TingtingLyons Ruth JStevanovski IgorChintalaphani Sanjog RDeveson Ira WJaratlerdsiri WeerachaiKumar Kishore RHayes Vanessa M - - Source: PubMed
Publication date: 2026/04/15
Morris Shelli MPilat KristinaGirard Emily JNoll AlyssaAng Lisa SPrice JasonMhyre Andrew JCorrenti Colin EBandaranayake Ashok DMehlin ChristopherClarke MidoriBrasel KennethMuthuraman ParvathiCrook Zachary RCole BonnieHylkema Tiffany ALe QuyMeshinchi SoheilOlson James M - Myeloid sarcoma with erythroid differentiation represents a mass-forming presentation of acute erythroid leukemia. This entity is exceptionally rare in the pediatric population, with only sporadic reports of cases predominantly involving the central nervous system or orbit. Diagnosing myeloid sarcoma with erythroid differentiation poses significant clinical and pathological challenges, particularly in cases without bone marrow involvement. Here, we report the case of a 1-year-old boy with myeloid sarcoma with erythroid differentiation exhibiting diffuse parenchymal brain infiltration without mass formation. Due to the patient's critical condition, a tissue biopsy was unfeasible. However, cerebrospinal fluid (CSF) flow cytometry revealed a significant population of immature erythroid cells, and RNA sequencing identified an NFIA::CBFA2T3 fusion-a genetic alteration previously reported in multiple myeloid sarcoma with erythroid differentiation cases. Notably, molecular testing confirmed that the patient was negative for both mutation and chromosome 17 loss. Given the diagnostic complexity of this tumor, both flow cytometry and RNA sequencing played pivotal roles in establishing the definitive diagnosis. - Source: PubMed
Publication date: 2026/05/12
Zhao YangHuang ZhizhuoXue LianZhang LepingJia Yueping - The World Health Organization classification of tumors of hematopoietic and lymphoid tissues recognizes acute erythroid leukemia as a distinct entity under myeloid neoplasms. Erythroblastic sarcoma, also known as extramedullary erythroid sarcoma, is defined as a rare extramedullary tumor composed of erythroid precursors, typically occurring outside the bone marrow. While both entities involve immature erythroid precursors and share similar histology, acute erythroid leukemia is a systemic marrow-based leukemia, whereas erythroblastic sarcoma is a localized mass-forming lesion. Since these entities can overlap morphologically with other clinically distinct myeloid malignancies and myelodysplastic syndrome, it is fundamental to characterize them genetically. - Source: PubMed
Publication date: 2026/05/04
Brunetti MartaAndersen KristinTjønnfjord Geir ErlandZeller BernwardSpetalen SigneMunthe-Kaas Monica ChengOsnes Liv Toril NygårdOs Tina TreuMicci Francesca - This study retrospectively analyzed the clinical manifestations, genetic characteristics, treatment courses, and prognoses of patients with pediatric acute megakaryoblastic leukemia (AMKL) with CBFA2T3::GLIS2 fusion treated at the Institute of Hematology, Chinese Academy of Medical Sciences. Further, the diagnostic and therapeutic features of this rare AMKL subtype, in conjunction with domestic and international literature, were summarized. The patients comprised one male and two females, with a median age at onset of 16 months (range, 8-19 months). Central nervous system leukemia was present at diagnosis in two cases. All were classified as acute myeloid leukemia (AML) -M(7) according to the French-American-British classification, with immunophenotypes demonstrating CD56 positivity and human leukocyte antigen-DR negativity. All patients showed complex abnormal karyotypes, including trisomy 21 in two cases. All patients achieved morphological complete remission (CR) after chemotherapy. However, all patients experienced early relapse, with a median relapse time of 11 months (range, 7-13 months), and the median overall survival time was 16 months (range, 15-47 months). One patient relapsed after the first hematopoietic stem cell transplantation and relapsed again after a second transplantation and is currently receiving palliative care. The other two patients discontinued treatment after relapse and subsequently died. These results reveal that CBFA2T3::GLIS2 fusion-positive AMKL is a highly aggressive subtype, frequently associated with a CD56-positive, HLA-DR-negative immunophenotype, and complex karyotypes, with trisomy 21 observed in a subset of cases. This subtype is characterized by a high relapse rate and an extremely poor prognosis. At present, effective therapeutic approaches are lacking, with an urgent need to explore novel treatment strategies to improve clinical outcomes. - Source: PubMed
Lin SGuo YZhang LChen Y MXiao J GCai X JYang W YChen X J