t(7;17)(p15;q11) JAZF1/SUZ12

0000-00-00   Jean-Loup Huret , Philippe Dessen 

(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

Genes Involved and Proteins

Gene name

JAZF1

Location

7p15.2

Gene name

SUZ12

Location

17q11.2

Highly cited references

Pubmed IDYearTitleCitations
252993082014Endometrial stromal tumors: the new WHO classification.50
235803822013Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X;22-translocation.43
239599732014Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.42
292759292018Endometrial stromal sarcomas and related neoplasms: new developments and diagnostic considerations.28
278458972017The JAZF1-SUZ12 fusion protein disrupts PRC2 complexes and impairs chromatin repression during human endometrial stromal tumorogenesis.25
229828992012Cyclin D1 as a diagnostic immunomarker for endometrial stromal sarcoma with YWHAE-FAM22 rearrangement.25
245302302014MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma.24
218364772011Frequency of known gene rearrangements in endometrial stromal tumors.24
253556212015Endometrial stromal sarcoma--the new genetic paradigm.23
268793822016JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas.16
301441862018Novel EPC1 gene fusions in endometrial stromal sarcoma.14
241861402014Frequent expression of KIT in endometrial stromal sarcoma with YWHAE genetic rearrangement.14
246967222014Uterine tumors resembling ovarian sex cord tumors (UTROSCT) with metastasis: clinicopathological study of two cases.12
264298732015Genomic landscape of endometrial stromal sarcoma of uterus.10
187228752008An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera.10
329330532020Molecular Classification of Endometrial Stromal Sarcomas Using RNA Sequencing Defines Nosological and Prognostic Subgroups with Different Natural History.7
277388152016[New features in the 2014 WHO classification of uterine neoplasms].6
323177042020High-grade transformation of low-grade endometrial stromal sarcomas lacking YWHAE and BCOR genetic abnormalities.5
322371882020A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.5
328898872021Genomic Profiling Aids Classification of Diagnostically Challenging Uterine Mesenchymal Tumors With Myomelanocytic Differentiation.5
283533872017Recent Developments in Surgical Pathology of the Uterine Corpus.5
212217812011Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice.5
293941682018Low-grade Endometrioid Stromal Sarcoma of the Paratestis: A Novel Report With Molecular Confirmation of JAZF1/SUZ12 Translocation.4
231591542013YWHAE-FAM22 endometrial stromal sarcoma: diagnosis by reverse transcription-polymerase chain reaction in formalin-fixed, paraffin-embedded tumor.4
161389092005Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.4
316155582019JAZF1-SUZ12 endometrial stromal sarcoma forming subserosal masses with extraordinary uptake of fluorodeoxyglucose on positron emission tomography: a case report.3
345615512022TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition.2
339864602021Re-evaluating tumors of purported specialized prostatic stromal origin reveals molecular heterogeneity, including non-recurring gene fusions characteristic of uterine and soft tissue sarcoma subtypes.2
328205702020Detection of MEAF6-PHF1 translocation in an endometrial stromal nodule.2
325240882020Immunohistochemical and Molecular Characterization of Endometrial Stromal Sarcomas.2
269900252016The application of next-generation sequencing-based molecular diagnostics in endometrial stromal sarcoma.2
271429112016[Endometrial stromal sarcoma: morphologic features and detection of JAZF1-SUZ12 and YWHAE FAM22 fusion genes].2
247501882014Colonic low-grade endometrial stromal sarcoma and orthotopic endometrial stromal tumor with limited infiltration sharing the JAZF1-SUZ12 gene fusion.2
228700922010Absence of the JAZF1/SUZ12 chimeric transcript in the immortalized non-neoplastic endometrial stromal cell line T HESCs.2
356493532022JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.1
353287412022Systematic Discovery of FBXW7-Binding Phosphodegrons Highlights Mitogen-Activated Protein Kinases as Important Regulators of Intracellular Protein Levels.1
329094822021Gynecological Sarcomas: Molecular Characteristics, Behavior, and Histology-Driven Therapy.1
349289642021RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.1
298439272018Hepatic endometrial stromal sarcoma.1
280026232017Comprehensive screening for MED12 mutations in gynaecological mesenchymal tumours identified morphologically distinctive mixed epithelial and stromal tumours.1
252882342014Molecular characterization of a population-based series of endometrial stromal sarcomas in Kuwait.1
349617642022ESR1 hotspot mutations in endometrial stromal sarcoma with high-grade transformation and endocrine treatment.0
357101392022Recurrent chromosomal translocations in sarcomas create a megacomplex that mislocalizes NuA4/TIP60 to Polycomb target loci.0
353395672022Discrepancies in pathological diagnosis of endometrial stromal sarcoma: a multi-institutional retrospective study from the Japanese clinical oncology group.0
340749592022Low-grade Endometrial Stromal Sarcoma With Sex Cord-like Differentiation and PHF1-JAZF1 Fusion With Deletions: A Diagnostic Pitfall of JAZF1 FISH.0
342818662021Severe Abdominal Recurrence of Low-grade Endometrial Stromal Sarcoma After Hysteroscopic Surgery.0
300283542019Next-generation Sequencing of an Ovarian Spindle Cell Tumor Identified an Ovarian Low-grade Endometrial Stromal Sarcoma: A Rare Entity.0
296237442018Endometrial Stromal Sarcoma With Hyalinizing Giant Rosettes, Mimicking Low-Grade Fibromyxoid Sarcoma.0

Bibliography

Pubmed IDLast YearTitleAuthors
172355692007Extrauterine 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