Genes, Chromosomes & Cancer最新文献

{"title":"Comparative DNA Methylation Profiling of Human and Murine ALK-Positive B-Cell Neoplasms","authors":"Selina Glaser,&nbsp;Rabea Wagener,&nbsp;Shannon K. Harkins,&nbsp;Claudia Voena,&nbsp;Susanne Bens,&nbsp;Wolfram Klapper,&nbsp;Camille Laurent,&nbsp;Stephan Mathas,&nbsp;Meiqi Ren,&nbsp;Sandrine Sander,&nbsp;Charlotte Schnaudt-Mastrangelo,&nbsp;Wilhelm Wößmann,&nbsp;Luc Xerri,&nbsp;Ole Ammerpohl,&nbsp;Andrew D. Zelenetz,&nbsp;Abner Louissaint Jr,&nbsp;Roberto Chiarle,&nbsp;Reiner Siebert","doi":"10.1002/gcc.70060","DOIUrl":"https://doi.org/10.1002/gcc.70060","url":null,"abstract":"<p>Structural genomic variants leading to anaplastic lymphoma kinase (ALK) gene fusions and aberrant expression of the ALK tyrosine kinase are the hallmark of subtypes of T- and B-lineage neoplasms, namely ALK-positive anaplastic large lymphoma (ALCL) and ALK-positive large B-cell lymphoma (LBCL). The latter is a rare aggressive lymphoma, which has been initially identified as a variant of diffuse LBCL (DLBCL) with plasmablastic features. Here, we performed comparative DNA methylation profiling of human and murine ALK-positive B-cell neoplasms. Array-based DNA methylation data from ALK-positive LBCL samples of eight patients were compared to that of DLBCL (<i>n</i> = 75), multiple myeloma (MM, <i>n</i> = 24), ALK-positive ALCL (<i>n</i> = 12) and normal B-cell populations (<i>n</i> = 93). ALK-positive LBCLs share a distinct DNA methylation signature similar to that of MM, characterized by lower global DNA methylation levels compared to DLBCLs and normal B-cell populations. DNA methylation alterations in ALK-positive LBCL were predominantly located in heterochromatic and polycomb-repressed regions. The epigenetic age and relative proliferative history of ALK-positive LBCL were intermediate between MM and DLBCL. B-cell neoplasms in <i>NPM</i>::<i>ALK</i> transgenic mice showed a similar hypomethylated signature when compared to normal murine B cells. Cross-species comparison indicated conservation of chromatin states and pathways affected by hypomethylation. Together, the findings suggest that in line with their phenotypical appearance human and murine ALK-positive B-cell lymphomas share an epigenetic profile more closely resembling that of plasma cell neoplasias than that of DLBCLs.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 7","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70060","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144705293","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":"Tr-KIT Downstream Regulation by YY1 and NFYA Transcription Factors Knockdown in Prostate Cancer Cells","authors":"Sercan Ergun,&nbsp;Ferda Arı,&nbsp;Erdal Benli,&nbsp;Diler Us Altay,&nbsp;Tevfik Noyan,&nbsp;Havva Erdem,&nbsp;Yeliz Kaşko Arıcı,&nbsp;Oğuzhan Akgün,&nbsp;Senanur Aslan","doi":"10.1002/gcc.70063","DOIUrl":"https://doi.org/10.1002/gcc.70063","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prostate cancer is a common and deadly cancer among men and has been the subject of many patients in its diagnosis and treatment. Imatinib, a tyrosine kinase inhibitor, can slow tumor formation by targeting c-KIT, an oncogenic receptor tyrosine kinase protein over-expressed in PCa cases. However, Imatinib has no effect on tr-KIT, a truncated form of c-KIT, which is over-expressed in PCa and is associated with neoplastic transformation. In this study, it is aimed to answer whether the anti-proliferative efficacy of Imatinib on PCa cells could be enhanced by inhibition of tr-KIT specific transcription factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and Results</h3>\u0000 \u0000 <p>For this purpose, gene expression analysis and cell viability assays were performed in LNCaP prostate cancer cells to investigate the effects of inhibition of transcription factors controlling tr-KIT expression (YY1 and NFYA) in combination with Imatinib administration. As a result, YY1 and NFYA were identified as tr-KIT-specific transcription factors and found that their knockdown increased the effectiveness of Imatinib mesylate treatment on LNCaP cells. The study also analyzed the gene expression changes of c-KIT, FYN, PLCγ1, and SAM68 genes and found that SAM68 expression decreased with NFYA and YY1 knockdown, suggesting the existence of other unknown mediators in the tr-KIT pathway.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>All in all, this study demonstrates that tr-KIT may be a potential pharmacological target for prostate cancer treatment and that inhibition of the transcription factors YY1 and NFYA may enhance the efficacy of Imatinib. SAM68 was found to be the most affected protein by the treatments, guiding future research.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 7","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144705688","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":"Molecular Classification of Resected Primary Duodenal Adenocarcinoma","authors":"Jacob de Bakker,&nbsp;Hedde Biesma,&nbsp;Tanya Soeratram,&nbsp;Jacqueline Egthuijsen,&nbsp;Tim de Back,&nbsp;Marc Besselink,&nbsp;Louis Vermeulen,&nbsp;Bauke Ylstra,&nbsp;Nicole van Grieken,&nbsp;Geert Kazemier","doi":"10.1002/gcc.70061","DOIUrl":"https://doi.org/10.1002/gcc.70061","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The molecular and histological characteristics of primary duodenal adenocarcinoma (DA) have been poorly described, which hampers the development of new treatment options. This study aimed to characterize the landscape of chromosomal copy number aberrations (CNAs), microsatellite instability status, and tumor–stroma content, and their association with clinicopathological characteristics of patients with DA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>DNA was extracted from tumor tissues of patients who underwent a primary surgical resection for DA in a single center (2000–2019). Shallow whole genome sequencing (sWGS) was performed to identify chromosomal CNAs and the genomic instability index (GII), for which 25% of the genome was altered, was used to classify tumors as CNA^low or CNA^high. A PCR-based assay was performed to classify tumors as microsatellite stable (MSS) or instable (MSI). Immunohistochemistry and digital image analysis were performed to determine the tumor–stroma content, for which 50% stroma content was used to classify tumors as stroma^low or stroma^high.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 74 patients with resected DA, sWGS identified 39 (52.7%) CNA^low and 35 (47.3%) CNA^high tumors. Overall, 16 (21.6%) DAs were MSI. All MSI tumors were CNA^low. The tumor–stroma content was low in 51 (68.9%) and high in 23 (31.1%) of DAs. CNA status was most predictive for 5-year overall survival: 45.5% for patients with CNA^low compared to 31.0% for patients with CNA^high DA (HR 2.20, 95% CI 1.12–4.30, <i>p</i> = 0.02).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>About half of resected DAs had CNA^low, which was associated with the most favorable prognosis. Subgrouping of DA could be used for patient stratification in future trials testing novel therapies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 7","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70061","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144606684","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":"YAP1::KMT2A-Rearranged Sarcoma: Report of a New Case With Unusual Morphology and Immunohistochemical Features","authors":"Caterina Fumagalli,&nbsp;Ruth Orellana,&nbsp;Sílvia Bagué,&nbsp;Malena Ferré,&nbsp;Allan Gonzalez,&nbsp;Lluis Catasús,&nbsp;Jaume Llauger,&nbsp;Ana Peiró,&nbsp;Paul Zamora Alarcón,&nbsp;Katarina Majercakova,&nbsp;Raúl Terés,&nbsp;Marie Karanian-Philippe,&nbsp;Franck Tirode,&nbsp;Cristina R. Antonescu","doi":"10.1002/gcc.70059","DOIUrl":"https://doi.org/10.1002/gcc.70059","url":null,"abstract":"<p>Recurrent <i>KMT2A</i> and <i>YAP1</i> related fusions have recently been reported in various mesenchymal neoplasms of different histogenesis. First, <i>YAP1::KMT2A</i> fusions have been described in a subset of MUC4-negative sclerosing epithelioid fibrosarcomas (SEF), while <i>VIM::KMT2A</i> fusions in a handful of cases associated with an undifferentiated spindle cell phenotype lacking stromal hyalinization. On the other hand, <i>YAP1</i> gene rearrangements have been reported in a wide spectrum of sarcomas, including vascular neoplasms such as epithelioid hemangioendothelioma (EHE). Despite these molecular advances, occasional challenges in classification may occur even if the pathognomonic fusion is identified. In this study, we report such a case of a soft tissue sarcoma displaying an unusual morphology and immunoprofile, which remained unclassified even after a <i>YAP1::KMT2A</i> fusion was detected. The lesion occurred in the left leg of a 65-year-old female and microscopically closely resembled a SEF, with epithelioid morphology organized in cords, nests, and sheets in a heavy hyalinized background. Focally, the cells showed cytoplasmic vacuoles with eosinophilic material, reminiscent of the “blisters cells” seen in EHE. Moreover, by immunohistochemistry (IHC), the tumor showed diffuse reactivity for vascular markers, including ERG, CD31, CD34, and D2-40, as well as for TFE3, while being negative for MUC4, CAMTA1, smooth-muscle actin, desmin, S100 and keratins. Targeted RNA sequencing revealed a <i>YAP1::KMT2A</i> fusion. Based on this molecular result and the conflicting morphologic and IHC findings, a definitive distinction between a MUC4-negative SEF and an EHE could not been established. To further subclassify the lesion, subsequent clustering analysis using RNAseq signature was performed against a vast group of sarcoma types on the same array. Results showed that the tumor was in close proximity to the SEF group, admixed together with the other <i>YAP1::KMT2A</i> MUC4 negative SEF sarcomas. This case is highly instructive, as it shows another application of RNA sequencing in clinical practice when discordant or uncertain results between pathologic findings and fusion type may occur. Indeed, RNAseq signature could help, in this context, to better classify the tumor as a <i>YAP1::KMT2A</i> sarcoma instead of a vascular tumor. Larger series are needed to evaluate the pathogenesis of these tumors and the relevance of vascular markers expression.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 7","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70059","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144606683","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":"Correction to “EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature”","authors":"","doi":"10.1002/gcc.70065","DOIUrl":"https://doi.org/10.1002/gcc.70065","url":null,"abstract":"<p>J. Vega-Gonzalez, J. A. C. Toro, E. L. García, G. Marquina, M. d. l. T. Serrano, A. M. C. Gallardo, R. B. Giménez, D. H. Martínez, A. G. Egido, L. A. García, L. Nielsen, J. C. Plaza, and L. O. Medina, “EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature,” <i>Genes Chromosomes Cancer</i> 64 (2025): e70048, https://doi.org/10.1002/gcc.70048.</p><p>This article was originally published with the incorrect article category of “Review Article.” The correct category is Brief Report. This has been corrected in the online version of the article.</p><p>We apologize for this error.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 7","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70065","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589643","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":"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}