Genes, Chromosomes & Cancer最新文献

{"title":"EWSR1 Rearrangements in Basaloid Neoplasms With Adnexal Differentiation","authors":"Carina A. Dehner,&nbsp;Shruti Agrawal,&nbsp;Baptiste Ameline,&nbsp;Faizan Malik,&nbsp;Sounak Gupta,&nbsp;Kevin C. Halling,&nbsp;Daniel Baumhoer,&nbsp;Ruifeng Guo,&nbsp;Ray","doi":"10.1002/gcc.70057","DOIUrl":"https://doi.org/10.1002/gcc.70057","url":null,"abstract":"<div>\u0000 \u0000 <p>Various cutaneous adnexal neoplasms have been associated with gene fusions as the main driver of their histogenesis, most of which showed poroid or hidradenomatous differentiation or represented other tumors of sweat glands. Recently, we encountered two cases of primitive basaloid neoplasms of predominantly folliculogenic/pilosebaceous origin, both surprisingly harboring recurrent <i>EWSR1</i> rearrangements. Both tumors presented in young patients of either sex (1 F; 17 years; 1 M; 37 years) and involved the dermis and subcutaneous tissue of the abdominal wall (case 1) and the buttock (case 2). Histologically, the tumors were composed of primitive, basaloid cells with areas of keratinization (case 1) or foci of sebaceous differentiation (case 2) and stained strongly with keratins, p40 (case 1) or p63 (case 2), while lacking significant CD99 expression in both cases. Case 1 harbored an <i>EWSR1::FLI1</i> fusion while case 2 harbored an <i>EWSR1::PBX3</i> fusion. Clinical follow-up was available for case 2 and showed no evidence of disease at 15 months of follow-up. Methylation profiling showed case 1 to cluster with cutaneous squamous cell carcinoma, while case 2 was independent but positioned close to salivary gland epithelial-myoepithelial carcinoma. These findings expand on the histopathologic and molecular genetic features of basaloid tumors with apparent adnexal differentiation and raise awareness to carefully interpret and correlate molecular findings with morphology and immunophenotype to avoid misinterpretation as a mesenchymal neoplasm.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 6","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144273267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathologic and Molecular Analysis of Primary Angiosarcoma of Bone—A Single Institution Experience","authors":"Takeshi Hirose,&nbsp;Hsin-Yi Chang,&nbsp;Robert A. Lefkowitz,&nbsp;John Healey,&nbsp;Cristina R. Antonescu","doi":"10.1002/gcc.70056","DOIUrl":"https://doi.org/10.1002/gcc.70056","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>Bone angiosarcoma (B-AS) is an exceedingly rare and aggressive vascular neoplasm, with limited therapeutic options and poor outcomes. Unlike the more prevalent clinical subsets (breast, head and neck), the pathogenesis of B-AS remains poorly defined, with no targeted therapeutic strategies available. Moreover, the often delays in diagnosis, either radiographically or pathologically, as well as the common multifocal presentation, further impact the feasibility of surgical management, contributing to lower survival rates. In this study, we investigated the clinicopathologic and molecular characteristics of B-AS to better define prognostic factors influencing outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Methods</h3>\u0000 \u0000 <p>This retrospective study analyzed 22 cases of B-AS managed at a single tertiary cancer center from 1998 to 2024. Clinical and pathologic data were extracted through chart reviews and re-assessment of radiology and histology. Molecular characterization was performed in a subset using targeted next-generation sequencing (NGS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The cohort included 14 males and eight females (median age: 64.5 years), with tumors mostly involving femur, pelvis, and spine. Twelve (55%) patients presented with disease limited to the bone, either solitary or multifocal, while 10 (45%) patients presented in addition with extraskeletal metastases at diagnosis. The skeletal distribution included six (27%) solitary bone lesions, with the remaining 16 being multifocal (four contiguous, twelve disseminated). A surgical procedure for the bone lesions was performed in 73% of cases, varying from intralesional curetting to limb amputation. Half of the patients received radiation, and 73% chemotherapy. By molecular profiling, all tumors showed a low tumor mutational burden (TMB), with the most frequent alterations being <i>KDR</i> mutations and <i>MYC</i> amplifications. Age and chemotherapy were significantly associated with improved overall survival (OS) (<i>p</i> &lt; 0.005); however, the 3-year OS was only 30%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Despite the multidisciplinary approach and orthopedic oncology expertise from a tertiary cancer center, the prognosis for B-AS remains poor. Although limited in number, the molecular profiling revealed overlapping genomic alterations with other clinical subsets of AS, having the potential for individualized patient management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 6","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144244817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epithelioid Inflammatory Myofibroblastic Sarcoma: Case Series With a First Report of CLTC::ALK Fusion in an Aggressive Disease","authors":"Daisy Maharjan,&nbsp;Carina Dehner,&nbsp;Ali Alani,&nbsp;Robert Bell,&nbsp;Sheila Segura","doi":"10.1002/gcc.70055","DOIUrl":"https://doi.org/10.1002/gcc.70055","url":null,"abstract":"<p>Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a rare and clinically aggressive variant of inflammatory myofibroblastic tumor (IMT). It typically presents in children and young adults, often affecting the abdominal cavity. It is characterized by the presence of plump, polyhedral, and epithelioid cells, and a distinctive nuclear or perinuclear ALK staining on immunohistochemistry. Various ALK fusion partners have been identified in EIMS, including <i>RANBP2, RRBP1, EML4</i>, and <i>VCL</i>. In this report, we present four cases of EIMS involving the abdominal cavity, including the first case with a <i>CLTC::ALK</i> fusion, which has previously been associated only with nonaggressive IMT.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 5","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paratesticular Endometrial Stromal Sarcoma-Like Sarcoma With EPC1-SUZ12 Fusion","authors":"Paul E. Rosenstiel,&nbsp;Kyle Meinke,&nbsp;John Lavin","doi":"10.1002/gcc.70052","DOIUrl":"https://doi.org/10.1002/gcc.70052","url":null,"abstract":"<div>\u0000 \u0000 <p>Endometrial stromal sarcoma-like (ESS-like) sarcomas have rarely been described in male patients and represent a subset of “Mullerian analog” tumors. These ESS-like sarcomas most commonly arise in the paratesticular or pelvic regions and often harbor the same signature molecular fusion events that are typical of endometrial stromal sarcoma (ESS) of the uterine corpus. Here we report and describe an ESS-like sarcoma of the paratesticular soft tissue in an 85-year-old man with an EPC1-SUZ12 t(10;17)(p11.22;q12) fusion. This fusion event has been described in a high-grade uterine ESS one time previously where it displayed an aggressive clinical course. However, our patient showed no evidence of metastatic disease prior to surgery or in a short follow-up period after resection.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 5","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143930301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinct Signatures of Chromosomal Involvement in 59 251 Translocations Across 58 Tumor Types. A Novel Perspective","authors":"Felix Mitelman,&nbsp;Nils Mandahl","doi":"10.1002/gcc.70053","DOIUrl":"https://doi.org/10.1002/gcc.70053","url":null,"abstract":"<p>Chromosomal translocations are key events in cancer, driving oncogenesis by disrupting and deregulating critical genes. While specific tumor-associated translocations are well studied, the frequencies and distributions of most remain unknown. Additionally, the role of chromosomal reshuffling in translocations has received little attention. This study presents data on the chromosomal involvement in 59 251 translocations reported in 58 tumor entities, including both benign and malignant tumors. Unlike studies focusing on tumor-specific abnormalities identified at the chromosome band level, this study examines translocations at the chromosomal level, offering a novel perspective on their distribution. This broader approach aims to uncover patterns that do not emerge or are disregarded in studies limited to tumor-specific aberrations. The resulting dataset provides a novel resource for deepening our understanding of the chromosomal origins of translocations in neoplasia. Comparisons of translocation frequency distributions among tumor types, when excluding the characteristic tumor-associated translocations, revealed that the patterns of chromosomal involvement in translocations are largely unique to each tumor entity. Statistical analyses of 241 pairwise comparisons of translocation spectra within hematologic disorders, solid tumors, and between groups of hematologic malignancies and both benign and malignant solid tumors showed insignificant/very weak associations (<i>R</i>² ≤ 0.3) in 98% of the comparisons. The findings hence demonstrate that different tumor types are characterized by distinct chromosomal translocation signatures, strongly suggesting that most translocations encountered in tumor cells are not merely random events. Consequently, our study highlights the potential of rare translocations to serve as indicators of disease-specific processes.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 5","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143930300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors","authors":"Patrick R. Blackburn,&nbsp;Mohammad K. Eldomery,&nbsp;Victor Pastor Loyola,&nbsp;Zonggao Shi,&nbsp;Anthony Arnoldo,&nbsp;Faizan Malik,&nbsp;Teresa Santiago,&nbsp;Rose Chami","doi":"10.1002/gcc.70050","DOIUrl":"https://doi.org/10.1002/gcc.70050","url":null,"abstract":"<p>Pediatric fibroblastic, myofibroblastic, and myoid tumors encompass several entities, many with characteristic gene fusions that are now emerging as molecularly defined tumor groups. Here, we present two cases of spindle cell neoplasms with novel <i>ACTB::FER</i> promoter swap fusions. Both tumors presented in the extremities of pediatric patients (9-year-old and 6-year-old females) as superficial skin nodules with slow growth. Histologically, both tumors showed monomorphic spindle cell proliferation in short fascicles, but without significantly increased mitotic activity, high-grade atypia, or necrosis. Both cases showed diffuse positivity for SMA with patchy desmin expression. RNA sequencing confirmed fusion breakpoints, revealing transcriptional upregulation of <i>FER</i>. Neither patient has had evidence of interval growth or recurrence to date. While the biological significance of <i>ACTB::FER</i> fusions remains unclear, their recurrence and the absence of other clear oncogenic drivers suggest a distinct molecular pathway that may define a novel entity. Fusions of <i>ACTB</i> and <i>FER</i> genes with different partners have been observed in rare aggressive mesenchymal tumors; however, the <i>ACTB::FER</i> promoter swap fusion is currently unrecognized in soft tissue tumors. We report the first two cases of soft tissue tumors harboring <i>ACTB::FER</i> fusions and expand the molecular spectrum of mesenchymal tumors with kinase gene alterations. Further, we highlight the importance of target-agnostic approaches for the detection of rare kinase fusions, which may not be included on targeted next-generation sequencing panels.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 5","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143930302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single-Cell Profiling of Mononuclear Cells Identifies Transcriptomics Signatures Differentiating Prostate Cancer From Benign Prostatic Hyperplasia","authors":"Kadriia Enikeeva,&nbsp;Vyacheslav Korobeynikov,&nbsp;Yuliya Sharifyanova,&nbsp;Elina Akramova,&nbsp;Polina Shmelkova,&nbsp;Diana Gainullinа,&nbsp;Liliia Kalimullina,&nbsp;Valentin Pavlov","doi":"10.1002/gcc.70051","DOIUrl":"https://doi.org/10.1002/gcc.70051","url":null,"abstract":"<div>\u0000 \u0000 <p>Prostate cancer (PCa) and benign prostatic hyperplasia (BPH) share overlapping etiological factors but differ molecularly. In the study, 4 patients with prostate cancer and 3 patients with BPH were included. All patients with prostate cancer and BPH had a histologically confirmed diagnosis. Among the prostate cancer group were 3 patients with acinar prostate adenocarcinoma and 1 patient with small-acinar prostate adenocarcinoma. Using single-cell RNA sequencing (scRNA-seq) on peripheral blood mononuclear cells (PBMCs) from PCa and BPH patients, we identified 16 immune cell clusters, with elevated CD14+ monocytes, NK cells, and γδ T cells in PCa. Differential gene expression analysis revealed 40 overexpressed genes in PCa monocytes, including <i>CSMD1</i>, <i>ZBTB16</i>, <i>ZNF217</i>, and <i>SERPINI2</i>, linked to tumor progression, cell cycle regulation, EMT, androgen signaling, and metabolism. <i>SCN2A</i> was highly expressed in PCa B cells, while <i>ABO</i>, <i>FMN1</i>, and <i>TXNIP</i> in CD4+ T cells modulated immune evasion, cytoskeletal regulation, and oxidative stress. Pathway analysis showed PCa monocytes had heightened interleukin-27 signaling, whereas BPH monocytes exhibited increased cholesterol storage and Notch signaling. CellChat analysis highlighted monocytes' central role in immune regulation, with distinct interactions via MIF, galectin, and TGF-β pathways in PCa and BPH. These findings reveal unique immune microenvironments and transcriptional heterogeneity between PCa and BPH, offering potential biomarkers for differentiation and insights into prostate pathology mechanisms.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 5","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143930299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion","authors":"Gulisa Turashvili,&nbsp;Edwin Choy,&nbsp;Adam S. Fisch,&nbsp;Esther Oliva","doi":"10.1002/gcc.70043","DOIUrl":"https://doi.org/10.1002/gcc.70043","url":null,"abstract":"<div>\u0000 \u0000 <p>Uterine sarcomas are uncommon mesenchymal neoplasms ranging from low- to high-grade or undifferentiated. High-grade sarcomas are characterized by various morphologic, immunohistochemical, and molecular alterations. Here, we report the first description of a patient with uterine sarcoma with a <i>MEIS2::FOXO4</i> fusion. This tumor showed alternating fascicular and diffuse architecture with a prominent nodular growth displaying striking hyalinization and less prominent myxoid background admixed with more cellular internodular areas. The neoplastic cells ranged from spindled to stellate to epithelioid and exhibited variable cytologic atypia and mitotic activity. Immunohistochemical stains showed diffuse expression of smooth muscle actin, preserved expression of PTEN, ATRX, and Rb1, wild-type expression of p53, weak expression of PLAG1, multifocal expression of MDM2, and no reactivity for desmin. RNA sequencing detected a <i>MEIS2::FOXO4</i> gene fusion with breakpoints at <i>MEIS2</i> exon 6 and <i>FOXO4</i> exon 2. Although this gene fusion has been described in other soft tissue neoplasms, it has not been previously reported in uterine sarcomas and highlights the significance of performing molecular analysis in uterine mesenchymal tumors with unusual morphology and/or immunophenotype.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 4","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143846132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NR1D1::MAML3 Fusion in an Aggressive Mesenchymal Neoplasm","authors":"Minh Chau Ta,&nbsp;Camille Gandon,&nbsp;Maxence Mancini,&nbsp;Philippe Lantier,&nbsp;Olaf Mercier,&nbsp;Samia Mourah,&nbsp;Maxime Battistella","doi":"10.1002/gcc.70049","DOIUrl":"https://doi.org/10.1002/gcc.70049","url":null,"abstract":"<div>\u0000 \u0000 <p><i>NR1D1</i>-rearranged tumors are distinct mesenchymal neoplasms with epithelioid morphology and aggressive potential. This report presents an 85-year-old male with a slow-growing sternal mass identified as a pseudo-cyst, characterized by a dense proliferation of epithelioid tumor cells. These cells exhibited pale cytoplasm and uniform oval nuclei, with some areas of spindle cells and extensive necrosis. The mitotic count was 12 per 1.7 mm². Immunohistochemical analysis showed positivity for EMA, ERG, AE1AE3, and CK7, but negativity for SMA, desmin, CD117, CD31, SOX10, MelanA, synaptophysin, INSM1, CK20, CD34, TTF1, WT1, caldesmon, myogenin, and collagen IV. INI1 expression was preserved. The Ki67 index was high. Whole-transcriptome sequencing revealed an in-frame <i>NR1D1</i>::<i>MAML3</i> fusion, retaining two key protein domains of <i>NR1D1</i>. Nine months post-diagnosis, the patient developed pleural, bilateral lung, and bone metastases. This case underscores the necessity of molecular analysis for precise tumor classification, given the tumor's varied morphological features and poor prognosis.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 4","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143845914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature","authors":"Jesus Vega-Gonzalez,&nbsp;Jose Antonio Cortés Toro,&nbsp;Esthefanía Latorre García,&nbsp;Gloria Marquina Ospina,&nbsp;Montserrat de la Torre Serrano,&nbsp;Ana María Colino Gallardo,&nbsp;Reyes Bergillos Giménez,&nbsp;Desiré Hernández Martínez,&nbsp;Alejandro García Egido,&nbsp;Lorenzo Alarcón García,&nbsp;Lone Nielsen,&nbsp;Jose Carlos Plaza,&nbsp;Luis Ortega Medina","doi":"10.1002/gcc.70048","DOIUrl":"https://doi.org/10.1002/gcc.70048","url":null,"abstract":"<div>\u0000 \u0000 <p>According to the 5th edition of the WHO Classification of Soft Tissue and Bone Tumors, the diagnosis of synovial sarcoma relies on morphology, immunohistochemistry, and the detection of a specific fusion involving the <i>SS18</i> gene with a member of the <i>SSX</i> gene family. However, few cases of synovial sarcoma that do not harbor such molecular alterations have been recently reported. We present the case of a patient with a diffuse pleural mass and pleural effusion that showed in a core needle biopsy a spindle cell neoplasia morphologically suggestive of synovial sarcoma. An <i>SS18</i> break-apart FISH was performed with a negative result. Afterwards, an <i>EWSR1::SSX1</i> fusion was detected by next-generation sequencing. There is scarce literature on non-SS18 fusion-driven synovial sarcomas, and no study has evaluated whether these novel molecular alterations have a relevant clinical impact on patients beyond the diagnostic value.</p>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 4","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143809684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}