Daisy Maharjan, Carina Dehner, Ali Alani, Robert Bell, Sheila Segura
{"title":"Epithelioid Inflammatory Myofibroblastic Sarcoma: Case Series With a First Report of CLTC::ALK Fusion in an Aggressive Disease","authors":"Daisy Maharjan, Carina Dehner, Ali Alani, Robert Bell, 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, Kyle Meinke, 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, 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><sup>2</sup> ≤ 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}
Patrick R. Blackburn, Mohammad K. Eldomery, Victor Pastor Loyola, Zonggao Shi, Anthony Arnoldo, Faizan Malik, Teresa Santiago, Rose Chami
{"title":"Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors","authors":"Patrick R. Blackburn, Mohammad K. Eldomery, Victor Pastor Loyola, Zonggao Shi, Anthony Arnoldo, Faizan Malik, Teresa Santiago, 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, Vyacheslav Korobeynikov, Yuliya Sharifyanova, Elina Akramova, Polina Shmelkova, Diana Gainullinа, Liliia Kalimullina, 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}
Gulisa Turashvili, Edwin Choy, Adam S. Fisch, Esther Oliva
{"title":"High-Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion","authors":"Gulisa Turashvili, Edwin Choy, Adam S. Fisch, 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}
Minh Chau Ta, Camille Gandon, Maxence Mancini, Philippe Lantier, Olaf Mercier, Samia Mourah, Maxime Battistella
{"title":"NR1D1::MAML3 Fusion in an Aggressive Mesenchymal Neoplasm","authors":"Minh Chau Ta, Camille Gandon, Maxence Mancini, Philippe Lantier, Olaf Mercier, Samia Mourah, 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 mm<sup>2</sup>. 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}
Jesus Vega-Gonzalez, Jose Antonio Cortés Toro, Esthefanía Latorre García, Gloria Marquina Ospina, Montserrat de la Torre Serrano, Ana María Colino Gallardo, Reyes Bergillos Giménez, Desiré Hernández Martínez, Alejandro García Egido, Lorenzo Alarcón García, Lone Nielsen, Jose Carlos Plaza, Luis Ortega Medina
{"title":"EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature","authors":"Jesus Vega-Gonzalez, Jose Antonio Cortés Toro, Esthefanía Latorre García, Gloria Marquina Ospina, Montserrat de la Torre Serrano, Ana María Colino Gallardo, Reyes Bergillos Giménez, Desiré Hernández Martínez, Alejandro García Egido, Lorenzo Alarcón García, Lone Nielsen, Jose Carlos Plaza, 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}
Selina Glaser, Rabea Wagener, Helene Kretzmer, Cristina López, Maria Joao Baptista, Susanne Bens, Stephan Bernhart, Kishor Bhatia, Arndt Borkhardt, Shaymaa Elgaafary, Steve Hoffmann, Daniel Hübschmann, Michael Hummel, Wolfram Klapper, Julia Kolarova, Markus Kreuz, Stefano Lazzi, Markus Löffler, Jose Tomas Navarro, Janet Neequaye, Noel Onyango, Timothy Onyuma, German Ott, Bernhard Radlwimmer, Marius Rohde, Andreas Rosenwald, Maciej Rosolowski, Matthias Schlesner, Monika Szczepanowski, Gustavo Tapia, Wilhelm Wößmann, Ralf Küppers, Lorenz Trümper, Lorenzo Leoncini, Peter Lichter, Coral del Val, Ole Ammerpohl, Birgit Burkhardt, Sam M. Mbulaiteye, Reiner Siebert, ICGC MMML-Seq Consortium; MMML Project
{"title":"Subtyping Burkitt Lymphoma by DNA Methylation","authors":"Selina Glaser, Rabea Wagener, Helene Kretzmer, Cristina López, Maria Joao Baptista, Susanne Bens, Stephan Bernhart, Kishor Bhatia, Arndt Borkhardt, Shaymaa Elgaafary, Steve Hoffmann, Daniel Hübschmann, Michael Hummel, Wolfram Klapper, Julia Kolarova, Markus Kreuz, Stefano Lazzi, Markus Löffler, Jose Tomas Navarro, Janet Neequaye, Noel Onyango, Timothy Onyuma, German Ott, Bernhard Radlwimmer, Marius Rohde, Andreas Rosenwald, Maciej Rosolowski, Matthias Schlesner, Monika Szczepanowski, Gustavo Tapia, Wilhelm Wößmann, Ralf Küppers, Lorenz Trümper, Lorenzo Leoncini, Peter Lichter, Coral del Val, Ole Ammerpohl, Birgit Burkhardt, Sam M. Mbulaiteye, Reiner Siebert, ICGC MMML-Seq Consortium; MMML Project","doi":"10.1002/gcc.70042","DOIUrl":"https://doi.org/10.1002/gcc.70042","url":null,"abstract":"<p>Burkitt lymphoma (BL) is an aggressive germinal center B-cell-derived malignancy. Historically, sporadic, endemic, and immunodeficiency-associated variants were distinguished, which differ in the frequency of Epstein–Barr virus (EBV) positivity. Aiming to identify subgroups based on DNA methylation patterns, we here profiled 96 BL cases, 17 BL cell lines, and six EBV-transformed lymphoblastoid cell lines using Illumina BeadChip arrays. DNA methylation analyses clustered the cases into four subgroups: two containing mostly EBV-positive cases (BL-mC1, BL-mC2) and two containing mostly EBV-negative cases (BL-mC3, BL-mC4). The subgroups BL-mC1/2, enriched for EBV-positive cases, showed increased DNA methylation, epigenetic age, and, in part, proliferation history compared to BL-mC3/4. CpGs hypermethylated in EBV-positive BLs were enriched for polycomb repressive complex 2 marks, while the CpGs hypomethylated in EBV-negative BLs were linked to, for example, B-cell receptor signaling. EBV-associated hypermethylation affected regulatory regions of genes frequently mutated in BL (e.g., <i>CCND3</i>, <i>TP53</i>) and impacted superenhancers. This finding suggests that hypermethylation may compensate for the lower mutational burden of pathogenic drivers in EBV-positive BLs. Though minor, significant differences were also observed between EBV-positive endemic and sporadic cases (e.g., at the <i>SOX11</i> and <i>RUNX1</i> loci). Our findings suggest that EBV status, rather than epidemiological variants, drives the DNA methylation-based subgrouping of BL.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 4","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787065","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}
Emma Rullo, Sabina Barresi, Sabrina Rossi, Sara Patrizi, Evelina Miele, Marta Barisella, Michela Casanova, Andrea Ferrari, Stefano Chiaravalli, Gloria Pelizzo, Rita Alaggio
{"title":"EGFR-KDD Myofibroblastic Neoplasm or Congenital Peribronchial Myofibroblastic Tumor (CPMT)? Report of a Congenital Myofibroblastic Neoplasm With Unusual Histologic Features","authors":"Emma Rullo, Sabina Barresi, Sabrina Rossi, Sara Patrizi, Evelina Miele, Marta Barisella, Michela Casanova, Andrea Ferrari, Stefano Chiaravalli, Gloria Pelizzo, Rita Alaggio","doi":"10.1002/gcc.70032","DOIUrl":"https://doi.org/10.1002/gcc.70032","url":null,"abstract":"<p>EGFR-kinase-domain duplication (KDD) has been reported in Infantile fibrosarcoma-like myofibroblastic tumors and cellular mesoblastic nephroma. We report a pulmonary neoplasm with EGFR-(KDD) and infantile fibrosarcoma-like histologic features in a female infant with an unusual clinical and histologic evolution, characterized by persistent disease with morphologic features of Congenital Peribronchial Myofibroblastic Tumor (CPMT) after chemotherapy and targeted therapy. The CPMT morphology with <i>EGFR-KDD</i> in the post-therapy specimen might be an evolution induced by the treatment, which suggests the hypothesis that CPMT is part of the morphologic spectrum of infantile fibrosarcoma/cellular mesoblastic nephroma.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 4","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70032","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762287","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}