ReviewOrphanet journal of rare diseases2016
JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas.
Review in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 62 citations in OpenAlex.
- Advances in uterine sarcoma management: A mini-review of clinical practice and molecular insights.Gynecologic oncology reports · 2026Review
- CXorf67 in malignancies: Deciphering epigenetic landscapes and clinical implications for precision oncology.Genes & diseases · 2026Review
- Cancer-associated fusion transcripts: mechanisms, functional roles, and clinical implications.Clinical and experimental medicine · 2026Review
- Case Report: Metastasis of low-grade endometrial stromal sarcoma to the inferior vena cava and right atrium: a case of successful one-stage surgical resection with favorable early outcome.Frontiers in radiology · 2025Article
- The NuA4/TIP60 histone-modifying complex and Hr78 modulate theOpen life sciences · 2025Article
- Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas.Cancer research and treatment · 2025Article
- Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms.PloS one · 2024Article
- Review
- Epigenetic Features in Uterine Leiomyosarcoma and Endometrial Stromal Sarcomas: An Overview of the Literature.Biomedicines · 2022Review
- Interrogating the Genomic Landscape of Uterine Leiomyosarcoma: A Potential for Patient Benefit.Cancers · 2022Review
- Article
- Know when to fold 'em: Polycomb complexes in oncogenic 3D genome regulation.Frontiers in cell and developmental biology · 2022Review
- RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.PLoS genetics · 2021Article
- LG-ESSs and HG-ESSs: underlying molecular alterations and potential therapeutic strategies.Journal of Zhejiang University. Science. B · 2021Review
- Fusion genes in gynecologic tumors: the occurrence, molecular mechanism and prospect for therapy.Cell death & disease · 2021Review
- Fusion Oncoproteins in Childhood Cancers: Potential Role in Targeted Therapy.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2021Review
- The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.Clinics (Sao Paulo, Brazil) · 2021Article
- Potential alternative progestin therapy for low-grade endometrial stromal sarcoma: A case report.Gynecologic oncology reports · 2020Article
- Whole-Genome Sequencing and Target Validation Analysis of Müllerian Adenosarcoma: A Tumor With Complex but Specific Genetic Alterations.Frontiers in oncology · 2020Article
- PRC2 is high maintenance.Genes & development · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Endometrial stromal sarcomas (ESSs) belong to the rarest uterine malignancies (prevalence category <1-9/1,000,000). According to the new 2014 World Health Organisation (WHO) classification, they are separated into four categories; benign endometrial stromal nodules (ESNs), low grade endometrial stromal sarcomas (LG-ESSs), high-grade endometrial stromal sarcomas (HG-ESSs) and undifferentiated uterine sarcomas (UUSs). Due to heterogeneous histopathologic appearance these tumors still represent diagnostic challenge, even for experienced pathologists. ESSs are genetically very heterogeneous and several chromosomal translocations and gene fusions have so far been identified in these malignancies. To date the JAZF1/SUZ12 gene fusion is by far the most frequent and seems to be the cytogenetic hallmark of ESN and LG-ESS. Based on present literature data this gene fusion is present in approximately 75% of ESN, 50% of LG-ESS and 15% of HG-ESS cases. The frequency of JAZF1/SUZ12 appearance varies between classic ESS and different morphologic variants. This gene fusion is suggested to become a specific diagnostic tool, especially in difficult borderline cases. In combination with the recently described YWHAE/FAM22 gene fusion the JAZF1/SUZ12 fusion could be used to differentiate between LG-ESS and HG-ESS. The purpose of this review is to summarize literature data published in last two and a half decades about this gene fusion, as a contribution to our understanding of ESS genetics and pathogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.