Ask about this productRelated genes to: PYGO1 Blocking Peptide
- Gene:
- PYGO1 NIH gene
- Name:
- pygopus family PHD finger 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 15q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-11-10
- Date modifiied:
- 2016-10-05
Related products to: PYGO1 Blocking Peptide
Related articles to: PYGO1 Blocking Peptide
- KMT2A-rearranged sarcomas represent a heterogeneous group of tumors with clinical behaviors ranging from surgical cure to local recurrence and metastasis. Previously reported fusion partners include YAP1 and VIM: YAP1::KMT2A::YAP1 is associated with sclerosing epithelioid fibrosarcoma (SEF)-like histology, whereas VIM::KMT2A tumors exhibit a small round-to-spindle cell morphology. A third fusion, CBX6::KMT2A::PYGO1, was reported with a spindle-cell morphology somewhat different from the YAP1::KMT2A::YAP1 pattern. Here, we describe a novel LDB1::KMT2A fusion in a spindle-cell sarcoma. The case involves a 19-year-old male who presented with an 8 cm mass situated in the left erector spinae muscle. Histopathological examination revealed a biphasic pattern comprising hypercellular fascicular/matted regions and hypocellular fibroma-like areas. Immunohistochemistry revealed diffuse positivity for CD99, SATB2, cyclin D1, BCL2, TLE1, pan-TRK, and NKX2.2, with focal BCOR expression and a Ki-67 proliferation index of approximately 10%. The tumor was negative for MUC4, SS18-SSX, WT1, cytokeratin (CKpan), vimentin, CD34, S-100, SOX10, SMA, STAT6, desmin, and MyoD1. Comprehensive genomic profiling via next-generation sequencing (NGS) identified a novel LDB1::KMT2A fusion, involving exons 1-10 of LDB1 and exons 4-36 of KMT2A. The rearrangement was verified using fluorescence in situ hybridization (FISH) and reverse transcription PCR (RT-PCR) techniques. Additionally, a pathogenic BCOR frameshift mutation (c.3203dup, p.E1069Gfs*10) was identified. The patient underwent wide surgical excision and remains disease-free at a 5-month follow-up. This report presents the first known case of an LDB1::KMT2A fusion in a spindle-cell sarcoma, expanding the molecular spectrum of the emerging entity of KMT2A-rearranged sarcomas. - Source: PubMed
Wang ZhiganZhang YingZhu MingxingZhou JingFeng JingjingLi DongbingMao RongjunXiao Sheng - Gastric cancer (GC) represents a significant therapeutic challenge due to its aggressive progression and limited treatment options, emphasizing the urgent need for novel therapeutic targets and strategies. Although PYGO1 functions as a Wnt co-transcriptional activator and chromatin effector, its role in cancer remains poorly characterized. This study aims to elucidate the role of PYGO1 in GC and uncover its regulatory mechanisms. - Source: PubMed
Publication date: 2025/07/29
Jia YanjuanLi YalingLi YanLi YonghongQu TaoFu ZhuominMa YuanyuanLi ZhenhaoWang WanxiaYu MiaoJin XiaojieGao XiaolingLiu Yongqi - Acute erythroid leukemia (AEL) accounts for 3% to 5% of AML patients. We present a case of AEL with whole exome sequencing (WES) data. - Source: PubMed
Publication date: 2024/07/30
Jena DeepakBalasubramanian PriyavadhanaHajra SubhajitRaghav Sunil Kumar - Congenital bladder anomalies are rare and are a leading cause of end stage renal failure in children. The Wnt signaling pathway, important during embryonic development, has been implicated in the pathogenesis of these conditions through regulation of gene expression, including essential transcription factors. We investigated the expression of four Wnt transcriptional targets, namely, Pygopus 1 (Pygo1), Connexin 43 (Cx43), FRA1 and TCF7L1 in three rare congenital bladder disorders: bladder exstrophy (BE), neurogenic bladder (NGB) and posterior urethral valves (PUV). - Source: PubMed
Publication date: 2024/10/05
Xie BoyuMillar MichaelArthurs CallumJohal NavroopFry ChristopherAhmed Aamir - MicroRNAs (miRNAs) carried in extracellular vesicles are one of the essential factors for embryo development. This study demonstrates that miRNA-146 b has negative impacts on the quality and development of bovine embryos and also shows its higher expression in non-blastocyst embryos and related EVs. - Source: PubMed
Publication date: 2024/01/23
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