Ask about this productRelated genes to: ZCCHC7 Blocking Peptide
- Gene:
- ZCCHC7 NIH gene
- Name:
- zinc finger CCHC-type containing 7
- Previous symbol:
- -
- Synonyms:
- FLJ22611, AIR1
- Chromosome:
- 9p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-09
- Date modifiied:
- 2016-10-05
Related products to: ZCCHC7 Blocking Peptide
Related articles to: ZCCHC7 Blocking Peptide
- Multiple sclerosis (MS) treatment response varies significantly, hindering effective management and necessitating better predictive biomarkers. Pharmacogenomics offers a promising avenue to identify genetic markers that, combined with clinico-demographic predictors, could enhance personalized therapeutic decisions. - Source: PubMed
Publication date: 2026/03/03
Corona AndreaClarelli FerdinandoPääkkönen KimmoHarroud AdilShchetynsky KlementyZollo AlenMingione AlessandraSorosina MelissaMascia ElisabettaGiordano AntoninoRocca Maria AssuntaPiehl FredrikStridh PernillaHemmer BernhardGoris AnDubois BénédicteSøndergaard Helle BachSellebjerg FinnD'alfonso SandraHarbo Hanne FlinstadOlsson TomasSaarela JannaPriori AlbertoFilippi MassimoKockum IngridEsposito FedericaMartinelli Boneschi Filippo - The PAX5 (paired box 5) gene encodes a transcription factor that plays a critical role in B-cell development. PAX5 rearrangement is a recurrent abnormality seen in about 1.0-2.5% of B-cell acute lymphoblastic leukemia (B-ALL) cases. In this study, we presented 3 cases of B-ALL harboring PAX5::ZCCHC7 rearrangement. We subsequently reviewed the literature and identified 45 additional B-ALL cases with PAX5::ZCCHC7. Our data showed that the majority of B-ALL patients with PAX5::ZCCHC7 were observed in various subtypes of B-ALL, including BCR::ABL1-like, BCR::ABL1, ETV6::RUNX1 and others. In B-ALL, PAX5::ZCCHC7 was always co-occur with other subtype-defining rearrangements, which as the sole abnormality in only 8 patients, with the remaining 34 patients harboring CRLF2, JAK2, TCF3 or other rearrangements. In PAX5::ZCCHC7, the PAX5 breakpoints are mainly between exon 1 and 2 (30/51). As a result, nearly all PAX5 protein domains are lost in PAX5::ZCCHC7, suggesting that the PAX5::ZCCHC7 seems to disrupt PAX5 similarly to a PAX5 deletion. In summary, the PAX5::ZCCHC7 is a recurrent genetic aberration in B-ALL and seems to act as an additional genetic abnormality of subtype-defining aberration. Whether the PAX5::ZCCHC7 could act as a leukemia-initiating event or not needs further investigation. - Source: PubMed
Publication date: 2024/11/27
Li YanZhang QinShao Haigang - Tumors resembling tenosynovial giant cell tumor (TGCT) but additionally forming chondroid matrix are rare and most often involve the temporomandibular joint (TMJ). We studied 21 tumors consisting of synoviocytes (large, eosinophilic mononuclear cells containing hemosiderin) and chondroid matrix to better understand these unusual neoplasms. The tumors occurred in 10 males and 11 females, in the age group of 31 to 80 years (median, 50 years) and involved the TMJ region (16), extremities (4), and spine (1). As in conventional TGCT, all were composed of synoviocytes, small histiocytes, foamy macrophages, siderophages, and osteoclast-like giant cells in variably hyalinized background. Expansile nodules of large, moderately atypical synoviocytes were present, in addition to "chondroblastoma-like," "chondroma-like," or "phosphaturic mesenchymal tumor-like" calcified matrix. The synoviocytes expressed clusterin (17/19) and less often desmin (3/15). The tumors were frequently CSF1 positive by chromogenic in situ hybridization (8/13) but at best weakly positive for CSF1 by immunohistochemistry (0/3). Background small histiocytes were CD163 positive (12/12). All were FGF23 negative (0/10). Cells within lacunae showed a synoviocytic phenotype (clusterin positive; S100 protein and ERG negative). RNA-Seq was successful in 13 cases; fusions were present in 7 tumors, including FN1::TEK (5 cases); FN1::PRG4 (2 cases); and MALAT1::FN1, PDGFRA::USP35, and TIMP3::ZCCHC7 (1 case each). Three tumors contained more than 1 fusion (FN1::PRG4 with TIMP3::ZCCHC7, FN1::TEK with FN1::PRG4, and FN1::TEK with MALAT1::FN1). Clinical follow-up (17 patients; median follow-up duration 38 months; range 4-173 months) showed 13 (76%) to be alive without evidence of disease and 4 (24%) to be alive with persistent/recurrent local disease. No metastases or deaths from disease were observed. We conclude that these unusual tumors represent a distinct category of synoviocytic neoplasia, which we term "chondroid synoviocytic neoplasm," rather than simply ordinary TGCT with cartilage. Despite potentially worrisome morphologic features, they appear to behave in at most a locally aggressive fashion. - Source: PubMed
Publication date: 2024/08/23
Kao Erica YArdic FisunFadra NumrahHohenstein Jessica DMopuri RohiniWenger Doris EStreich LukasHines Lisa MFolpe Andrew L - Gene fusions are key drivers in acute leukemia, impacting diagnosis and treatment decisions. We analyzed 264 leukemia patients using targeted RNA sequencing with conventional karyotyping and reverse transcription polymerase chain reaction (RT-PCR). Leukemic fusions were detected in 127 patients (48.1%). The new guidelines introduced additional diagnostic criteria, expanding the spectrum of gene fusions. We discovered three novel fusions (, , and ). We analyzed recurrent breakpoints for the and rearrangements. Targeted RNA sequencing showed consistent results with RT-PCR in all tested samples. However, when compared to conventional karyotyping, we observed an 83.3% concordance rate, with 29 cases found only in targeted RNA sequencing, 7 cases with discordant results, and 5 cases found only in conventional karyotyping. For the five cases where known leukemic gene rearrangements were suspected only in conventional karyotyping, we conducted additional messenger RNA sequencing in four cases and proved no pathogenic gene rearrangements. Targeted RNA sequencing proved advantageous for the rapid and accurate interpretation of gene rearrangements. The concurrent use of multiple methods was essential for a comprehensive evaluation. Comprehensive molecular analysis enhances our understanding of leukemia's genetic basis, aiding diagnosis and classification. Advanced molecular techniques improve clinical decision-making, offering potential benefits. - Source: PubMed
Publication date: 2024/07/05
Kim Seo WanKim NamsooChoi Yu JeongLee Seung-TaeChoi Jong RakShin Saeam - Whole-genome sequencing of longitudinal tumor pairs representing transformation of follicular lymphoma to high-grade B cell lymphoma with MYC and BCL2 rearrangements (double-hit lymphoma) identified coding and noncoding genomic alterations acquired during lymphoma progression. Many of these transformation-associated alterations recurrently and focally occur at topologically associating domain resident regulatory DNA elements, including H3K4me3 promoter marks located within H3K27ac super-enhancer clusters in B cell non-Hodgkin lymphoma. One region found to undergo recurrent alteration upon transformation overlaps a super-enhancer affecting the expression of the PAX5/ZCCHC7 gene pair. ZCCHC7 encodes a subunit of the Trf4/5-Air1/2-Mtr4 polyadenylation-like complex and demonstrated copy number gain, chromosomal translocation and enhancer retargeting-mediated transcriptional upregulation upon lymphoma transformation. Consequently, lymphoma cells demonstrate nucleolar dysregulation via altered noncoding 5.8S ribosomal RNA processing. We find that a noncoding mutation acquired during lymphoma progression affects noncoding rRNA processing, thereby rewiring protein synthesis leading to oncogenic changes in the lymphoma proteome. - Source: PubMed
Publication date: 2023/12/04
Leeman-Neill Rebecca JSong DongBizarro JonathanWacheul LudivineRothschild GersonSingh SameerYang YangSarode Aditya YGollapalli KishoreWu LijingZhang WanweiChen YiyunLauring Max CWhisenant D EricBhavsar ShwetaLim JunghyunSwerdlow Steven HBhagat GovindZhao QianBerchowitz Luke ELafontaine Denis L JWang JiguangBasu Uttiya