(Note: the fusion was discovered by NGS. Many chromosome rearrangement mechanisms such as translocation, inversion,deletion or complex rearrangement may lead to the same fusion)
Note
Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to u00a0How to contribute
Summary
Note
Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to How to contribute
if you are an author who wish to write a full paper/card on this translocation,go to How to contribute
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35710139 | 2022 | Recurrent chromosomal translocations in sarcomas create a megacomplex that mislocalizes NuA4/TIP60 to Polycomb target loci. | 110 |
| 35649353 | 2022 | JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation. | 97 |
| 32889887 | 2021 | Genomic Profiling Aids Classification of Diagnostically Challenging Uterine Mesenchymal Tumors With Myomelanocytic Differentiation. | 78 |
| 27845897 | 2017 | The JAZF1-SUZ12 fusion protein disrupts PRC2 complexes and impairs chromatin repression during human endometrial stromal tumorogenesis. | 75 |
| 35328741 | 2022 | Systematic Discovery of FBXW7-Binding Phosphodegrons Highlights Mitogen-Activated Protein Kinases as Important Regulators of Intracellular Protein Levels. | 64 |
| 26879382 | 2016 | JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas. | 53 |
| 34928964 | 2021 | RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells. | 48 |
| 34961764 | 2022 | ESR1 hotspot mutations in endometrial stromal sarcoma with high-grade transformation and endocrine treatment. | 47 |
| 34561551 | 2022 | TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition. | 45 |
| 26429873 | 2015 | Genomic landscape of endometrial stromal sarcoma of uterus. | 44 |
| 22982899 | 2012 | Cyclin D1 as a diagnostic immunomarker for endometrial stromal sarcoma with YWHAE-FAM22 rearrangement. | 40 |
| 32933053 | 2020 | Molecular Classification of Endometrial Stromal Sarcomas Using RNA Sequencing Defines Nosological and Prognostic Subgroups with Different Natural History. | 35 |
| 32317704 | 2020 | High-grade transformation of low-grade endometrial stromal sarcomas lacking YWHAE and BCOR genetic abnormalities. | 31 |
| 36731460 | 2023 | Genomic and Transcriptomic Characterization Revealed the High Sensitivity of Targeted Therapy and Immunotherapy in a Subset of Endometrial Stromal Sarcoma. | 30 |
| 32524088 | 2020 | Immunohistochemical and Molecular Characterization of Endometrial Stromal Sarcomas. | 27 |
| 24696722 | 2014 | Uterine tumors resembling ovarian sex cord tumors (UTROSCT) with metastasis: clinicopathological study of two cases. | 18 |
| 31615558 | 2019 | JAZF1-SUZ12 endometrial stromal sarcoma forming subserosal masses with extraordinary uptake of fluorodeoxyglucose on positron emission tomography: a case report. | 16 |
| 22870092 | 2010 | Absence of the JAZF1/SUZ12 chimeric transcript in the immortalized non-neoplastic endometrial stromal cell line T HESCs. | 15 |
| 36842409 | 2023 | Endometrial stromal tumors of the uterus: Epidemiology, pathological and biological features, treatment options and clinical outcomes. | 0 |
| 25355621 | 2015 | Endometrial stromal sarcoma--the new genetic paradigm. | 0 |
| 32909482 | 2021 | Gynecological Sarcomas: Molecular Characteristics, Behavior, and Histology-Driven Therapy. | 0 |
| 29843927 | 2018 | Hepatic endometrial stromal sarcoma. | 0 |
| 25299308 | 2014 | Endometrial stromal tumors: the new WHO classification. | 0 |
| 37867306 | 2024 | Targeted RNA Sequencing Highlights a Diverse Genomic and Morphologic Landscape in Low-grade Endometrial Stromal Sarcoma, Including Novel Fusion Genes. | 0 |
| 28353387 | 2017 | Recent Developments in Surgical Pathology of the Uterine Corpus. | 0 |
| 21836477 | 2011 | Frequency of known gene rearrangements in endometrial stromal tumors. | 0 |
| 29275929 | 2018 | Endometrial stromal sarcomas and related neoplasms: new developments and diagnostic considerations. | 0 |
| 33118176 | 2021 | p53 immunohistochemical analysis of fusion-positive uterine sarcomas. | 0 |
| 37478616 | 2023 | Clinical characteristics and prognostic factors of endometrial stromal sarcoma and undifferentiated uterine sarcoma confirmed by central pathologic review: A multi-institutional retrospective study from the Japanese Clinical Oncology Group. | 0 |
| 21221781 | 2011 | Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. | 0 |
| 27142911 | 2016 | [Endometrial stromal sarcoma: morphologic features and detection of JAZF1-SUZ12 and YWHAE FAM22 fusion genes]. | 0 |
| 24750188 | 2014 | Colonic low-grade endometrial stromal sarcoma and orthotopic endometrial stromal tumor with limited infiltration sharing the JAZF1-SUZ12 gene fusion. | 0 |
| 27738815 | 2016 | [New features in the 2014 WHO classification of uterine neoplasms]. | 0 |
| 32820570 | 2020 | Detection of MEAF6-PHF1 translocation in an endometrial stromal nodule. | 0 |
| 35339567 | 2022 | Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group. | 0 |
| 18722875 | 2008 | An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera. | 0 |
| 34074959 | 2022 | Low-grade Endometrial Stromal Sarcoma With Sex Cord-like Differentiation and PHF1-JAZF1 Fusion With Deletions: A Diagnostic Pitfall of JAZF1 FISH. | 0 |
| 32237188 | 2020 | A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review. | 0 |
| 23580382 | 2013 | Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X;22-translocation. | 0 |
| 30144186 | 2018 | Novel EPC1 gene fusions in endometrial stromal sarcoma. | 0 |
| 26990025 | 2016 | The application of next-generation sequencing-based molecular diagnostics in endometrial stromal sarcoma. | 0 |
| 25288234 | 2014 | Molecular characterization of a population-based series of endometrial stromal sarcomas in Kuwait. | 0 |
| 23959973 | 2014 | Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma. | 0 |
| 33986460 | 2021 | Re-evaluating tumors of purported specialized prostatic stromal origin reveals molecular heterogeneity, including non-recurring gene fusions characteristic of uterine and soft tissue sarcoma subtypes. | 0 |
| 24186140 | 2014 | Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement. | 0 |
| 34281866 | 2021 | Severe Abdominal Recurrence of Low-grade Endometrial Stromal Sarcoma After Hysteroscopic Surgery. | 0 |
| 29394168 | 2018 | Low-grade Endometrioid Stromal Sarcoma of the Paratestis: A Novel Report With Molecular Confirmation of JAZF1/SUZ12 Translocation. | 0 |
| 23211293 | 2013 | Endometrial stromal sarcomas with sex cord differentiation are associated with PHF1 rearrangement. | 0 |
| 24530230 | 2014 | MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma. | 0 |
| 29623744 | 2018 | Endometrial Stromal Sarcoma With Hyalinizing Giant Rosettes, Mimicking Low-Grade Fibromyxoid Sarcoma. | 0 |
| 28002623 | 2017 | Comprehensive screening for MED12 mutations in gynaecological mesenchymal tumours identified morphologically distinctive mixed epithelial and stromal tumours. | 0 |
| 16138909 | 2005 | Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. | 0 |
| 23159154 | 2013 | YWHAE-FAM22 endometrial stromal sarcoma: diagnosis by reverse transcription-polymerase chain reaction in formalin-fixed, paraffin-embedded tumor. | 0 |
| 30028354 | 2019 | Next-generation Sequencing of an Ovarian Spindle Cell Tumor Identified an Ovarian Low-grade Endometrial Stromal Sarcoma: A Rare Entity. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17235569 | 2007 | Extrauterine endometrial stromal sarcoma with JAZF1/JJAZ1 fusion confirmed by RT-PCR and interphase FISH presenting as an inguinal tumor. | Sato K et al |
Citation
Jean-Loup Huret ; Philippe Dessen
t(7;17)(p15;q11) JAZF1/SUZ12
Atlas Genet Cytogenet Oncol Haematol. 0000-00-00
Online version: http://atlasgeneticsoncology.org/solid-tumor/107451/t(7;17)(p15;q11)-jazf1-suz12
