Ask about this productRelated genes to: JAZF1 Blocking Peptide
- Gene:
- JAZF1 NIH gene
- Name:
- JAZF zinc finger 1
- Previous symbol:
- -
- Synonyms:
- TIP27, DKFZp761K2222, ZNF802
- Chromosome:
- 7p15.2-p15.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-10-05
- Date modifiied:
- 2018-02-13
Related products to: JAZF1 Blocking Peptide
Related articles to: JAZF1 Blocking Peptide
- Extra-uterine endometrial stromal sarcoma (EESS) is a rare mesenchymal tumour, and primary gastric involvement represents an exceptionally unusual presentation. Because such tumours present as ulcerated submucosal masses, they are easily misdiagnosed as gastrointestinal stromal tumours (GIST), making accurate, timely recognition critical for appropriate management. A 53-year-old woman presented with a five-day history of epigastric pain, low-grade fever, and malaise. Computed tomography (CT) imaging revealed an 11 cm vascular mass on the greater curvature of the stomach with splenic-hilum and transverse-colon contact, without evidence of local invasion. Upper gastrointestinal endoscopy revealed a friable ulcerated lesion, and biopsies suggested a spindle-cell neoplasm favouring GIST. At laparotomy, the tumour was found to infiltrate the stomach, splenic hilum, colon serosa, and omentum. An en bloc partial gastrectomy, splenectomy, segmental colectomy, cholecystectomy, and omentectomy were performed; final pathology showed microscopic involvement of the gastric radial soft-tissue margin. Histology demonstrated a primary gastric low-grade ESS with a vascular pattern and low mitotic index, while immunohistochemistry showed diffuse CD10/ER/PR positivity and absence of c-KIT, DOG-1, desmin, S100, SOX10, and STAT6, excluding GIST, leiomyosarcoma, PEComa, solitary fibrous tumour, and schwannoma. Targeted RNA-based sequencing identified a canonical JAZF1::SUZ12 fusion, confirming low-grade EESS. Given the tumour's low-grade, hormone-receptor-positive biology and microscopic radial margin involvement, adjuvant endocrine therapy with letrozole (2.5 mg daily) was initiated. At the six-month follow-up, the patient remained asymptomatic with no radiological evidence of recurrence. Primary gastric ESSS remains an exceptional finding and is easily mistaken for GIST. Accurate diagnosis and optimal management depend on comprehensive histology and immunohistochemistry, supported by fusion-gene testing, to guide individualised surgical and adjuvant management. Given the tumour's potential for very late relapse, prolonged surveillance is warranted despite the favourable short-term outcome. - Source: PubMed
Publication date: 2026/03/23
Mylonakis AdamKyros EleandrosKarakeke MariaKarakeke EleniPanagakis AndreasKastanaki PagonaKarydakis LysandrosPergaris AlexandrosSakellariou StratigoulaPapalampros Alexandros - The genetic basis of cardiovascular-kidney-metabolic syndrome (CKMs) involves complex pleiotropy, necessitating analytical approaches capable of dissecting shared genetic architectures across multiple cardiometabolic traits. - Source: PubMed
Lu ChuanlongLi LizhengChen JinshanChang RunzeDong Honglin - The spectrum of causal variants, mechanisms, and immunologic gene networks that influence pediatric atopic traits are not completely understood. Human genetic variation associated with transcript abundance (eQTLs) can help to advance our understanding, yet prior work has focused on profiling immune cell populations collected from peripheral blood primarily in adult populations, leaving uncharacterized tissue-resident lymphocytes collected from children. Here, we paired genotyping with gene expression profiling across four populations of tonsil-derived immune cell types - including previously uncharacterized germinal center B cells - collected from 103 children across development (ages 1-18). Using these data, we report cell-type specific gene networks and identify 13,393 eGenes (1,793 eGenes not previously reported in similar datasets) influenced by 27,603 eQTLs (5,199 not previously reported). We link discovered eQTLs to associations identified in pediatric and adult asthma and atopy traits, nominating 78 eGenes like , and in disease relevant cell types. Our resource is freely available and exemplifies the importance of discovery in native tissues and across human development. - Source: PubMed
Publication date: 2026/03/17
Lorenz KimYoon SamuelLe Coz CaroleZur KarenWells AndrewRomberg NeilVoight Benjamin F - High-grade endometrial stromal sarcoma (HGESS), which was not recognized as a distinct entity in the third edition of the World Health Organization (WHO) classification and was therefore included in the undifferentiated uterine sarcoma (UUS) category, was reestablished as a separate entity in the fourth edition. HGESS shares BCL-6 corepressor (BCOR) alterations with undifferentiated small round-cell sarcoma (USRCS) of the soft tissue and clear cell sarcoma of the kidney (CCSK). This study aims to perform a comparative morphological, immunohistochemical, and molecular analysis of HGESS, UUS, USRCS, and CCSK. Consecutive uterine sarcomas diagnosed as HGESS or UUS were reviewed and compared to BCOR-altered USRCS (n = 28) and CCSK (n = 10) (including both previously published and new cases). Molecular, DNA methylome (DNAm), and copy number variation (CNV) analyses were performed. DNAm data of 93 previously analyzed uterine and round-cell tumors of several different types were used for clustering analysis. Twenty-five uterine sarcomas (six HGESS and 19 UUS) were included; five of six HGESS cases showed fusions associated with BCOR alterations (YWHAE::NUTM2A/B, EPC1::KDM2B, ZC3H7B::BCOR); UUS showed no fusions (n = 15) or fusions unrelated to BCOR alterations (n = 4). All USRCS and CCSK cases showed either BCOR-ITD or BCOR alteration-related fusions. BCOR-altered HGESS showed broad morphological and immunophenotypic overlap with USRCS and CCSK. DNAm analysis showed that BCOR-altered HGESS, USRCS, and CCSK clustered together, separately from all other tumor types. The non-BCOR-altered HGESS showed a JAZF1::SUZ12 fusion and arose from a low-grade endometrial stromal sarcoma component. CNVs were found in 15/16 uterine sarcomas and in 16/36 USRCS/CCSK cases. BCOR-altered HGESS appeared to be closely related to BCOR-altered USRCS and CCSK rather than to other uterine sarcomas. We suggest that HGESS with BCOR alterations may warrant reclassification as 'BCOR-altered uterine sarcomas'. © 2026 The Pathological Society of Great Britain and Ireland. - Source: PubMed
Publication date: 2026/02/18
Arciuolo DamianoPatrizi SaraAlaggio RitaTravaglino AntonioScaglione GiuliaVallese SilviaSantoro AngelaPedace LuciaNardini ClaudiaMilano Giuseppe MariaLocatelli FrancoGiovannoni IsabellaBarresi SabinaPedone Anchora LuigiFedeli CamillaCiccarone FrancescaInzani FredianoMiele EvelinaZannoni Gian Franco - Low-grade endometrial stromal sarcomas (LGESS) and endometrial stromal nodules represent a distinct entity with characteristic morphology, immunohistochemical profile, and molecular features. It has been suggested that the activation of the Wnt signaling pathway is a potential driver in some of these tumors. Approximately 70-75% of LGESS are characterized by non-random recurrent fusions mostly involving JAZF1 and PHF1 genes. Although the exact mechanism remains unclear, activation of the Wnt signaling pathway appears to be related to the functional deregulation of chromatin remodeling complexes caused by these fusion proteins. However, knowledge about other possible mechanisms and recurrent molecular alterations occurring at the DNA level in LGESS remains limited. We report three cases of LGESS in patients aged 39, 49, and 50, lacking recurrent fusions but harboring CTNNB1 mutations in exon 3 as the sole detectable molecular alteration. One case had morphological features of typical LGESS (in some areas with perivascular whorling, which was not a dominant feature), the second case showed features of the fibroblastic variant of LGESS, and the third case comprised a LGESS with a peculiar morphology with diffuse whorling morphologically identical to the recently described entity endometrial stromal tumor with GREB1::CTNNB1 fusion. RNA-Seq-based clustering analysis of the three cases and a set of 193 uterine tumors showed that the CTNNB1-mutated cases clustered near LGESS cases. This study adds to the growing body of evidence that CTNNB1 mutations represent a driver molecular event in a small subset of endometrial stromal tumors. Moreover, the results of our study suggest that tumors with CTNNB1 mutation and GREB1::CTNNB1 fusion may exhibit identical morphology and potentially represent the same category of tumor. Characterization and reporting of additional cases are needed to determine whether these are part of the spectrum of low-grade endometrial stromal tumors (either endometrial stromal nodule or LGESS) or represent a separate category of tumors characterized by CTNNB1 alteration as a driver event. - Source: PubMed
Publication date: 2026/01/28
Dundr PavelRadová EliškaHojný JanKudrnová NikolaKendall Bártů MichaelaNěmejcová KristýnaKalousová MartaFrühauf FilipCibula DavidMatěj RadoslavMcCluggage W GlennStružinská Ivana