Genes, Chromosomes & Cancer最新文献

{"title":"Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF-/MEK-inhibitor treatment—A case report and review of the literature","authors":"Lennart von Fritsch,&nbsp;Nikolas von Bubnoff,&nbsp;Klaus Weber,&nbsp;Jutta Kirfel,&nbsp;Cleopatra Schreiber,&nbsp;Tobias Keck,&nbsp;Ulrich Wellner","doi":"10.1002/gcc.23222","DOIUrl":"10.1002/gcc.23222","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Pancreatic acinar cell carcinomas are rare malignant neoplasms. High-quality evidence about the best treatment strategy is lacking. We present the case of a 52-year-old male with a <i>BRAF</i>^<i>V600E</i>-mutated PACC who experienced a complete remission after chemotherapy with BRAF-/MEK-inhibitors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>The patient presented with upper abdomen pain, night sweat, and weight loss. CT scan showed a pancreatic tumor extending from the pancreas head to body. Histological workup identified an acinar cell carcinoma. As the tumor was inoperable, chemotherapy with FOFIRNIOX was initiated and initially showed a slight regression of disease. The regimen had to be discontinued due to severe side effects. Molecular analysis identified a <i>BRAF</i>^<i>V600E</i> mutation, so the patient was started on BRAF- and MEK-inhibitors (dabrafenib/trametinib). After 16 months, CT scans showed a near complete remission with a markedly improved overall health.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Studies suggest that up to one-fourth of PACCs carry a <i>BRAF</i> mutation and might therefore be susceptible to a BRAF-/MEK-inhibitor therapy. This offers a new therapeutic pathway to treat this rare but malignant neoplasm.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23222","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716020","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":"Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic","authors":"Lydia Ouchene,&nbsp;Blake Wilde,&nbsp;Fiona Chan-Pak-Choon,&nbsp;Jose Camacho Valenzuela,&nbsp;Fadi Brimo,&nbsp;Leora Witkowski,&nbsp;Heather Christofk,&nbsp;Celine Domecq,&nbsp;Lili Fu,&nbsp;Evan Weber,&nbsp;Brianna Lemieux Anglin,&nbsp;Elena Netchiporouk,&nbsp;William D. Foulkes","doi":"10.1002/gcc.23221","DOIUrl":"https://doi.org/10.1002/gcc.23221","url":null,"abstract":"<p>Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome characterized by cutaneous leiomyomas, uterine leiomyomas, and aggressive renal cancer. Germline variants in the fumarate hydratase (<i>FH</i>) gene predispose to HLRCC. Identifying germline pathogenic <i>FH</i> variants enables lifetime renal cancer screening and genetic testing for family members. In this report, we present a <i>FH</i> missense variant (c.1039T&gt;C (p.S347P)), initially classified as a variant of uncertain significance. Clinical assessment, histopathological findings, molecular genetic studies, and enzymatic activity studies support the re-classification of the <i>FH</i> c.1039T&gt;C variant to “pathogenic” based on ACMG/AMP criteria. Further insights into pathological recognition of FH-deficient renal cancer are discussed and should be recognized. This study has shown how (a) detailed multi-disciplinary analyses of a single variant can reclassify rare missense variants in <i>FH</i> and (b) careful pathological review of renal cancers is obligatory when HLRCC is suspected.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23221","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139704684","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":"Deciphering epigenetic regulation of enhancers in high-risk prostate cancer","authors":"A. V. Tuzova,&nbsp;B. Moran,&nbsp;N. M. Russell,&nbsp;S. Das,&nbsp;F. Delahaye,&nbsp;R. Silva,&nbsp;C. Barrett,&nbsp;R. W. G. Watson,&nbsp;A. O'Neill,&nbsp;W. M. Gallagher,&nbsp;J. Greally,&nbsp;A. S. Perry","doi":"10.1002/gcc.23218","DOIUrl":"https://doi.org/10.1002/gcc.23218","url":null,"abstract":"<p>Prostate cancer (PCa) is associated with widespread promoter hypermethylation. We hypothesized that aberrant DNA methylation also targets gene enhancers, modulating their activity and contributing to disease etiology. A patient discovery set (<i>n</i> = 37) was used for differential methylation analysis and biomarker identification using the Infinium methylation EPIC array, on high-risk (<i>n</i> = 13), low-risk (<i>n</i> = 11), and histologically benign (<i>n</i> = 13) tissues. Enhancers were primarily hypermethylated. However proportionally, hypomethylated enhancers were more prominent in high-risk (<i>n</i> = 385, 15%) than low-risk (<i>n</i> = 105, 10%) disease, primarily targeting genes involved in development and enriched for oncoprotein binding motifs, including FOXA1. The clinical significance of enhancer methylation was evaluated by identifying a 17 enhancer differentially methylated probe (DMP) signature using a Least Absolute Shrinkage and Selection Operator model in the discovery set. A large external dataset (<i>n</i> = 746) obtained from four publicly available prostate tissue methylation array studies was used to assess the enhancer signature through logistic regression models trained on a 2/3 training set and tested in a 1/3 test set. This delivered an area under the curve of 0.81 (95% bootstrapped CI 0.78–0.9) for selective detection of high-risk PCa, achieving a 0.71 sensitivity and 0.76 specificity. Array-wide aberrant DNA methylation at enhancers highlighted their epigenetic perturbance in high-risk disease. A clinically significant enhancer signature from this study could be used for detecting high-risk PCa.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23218","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139704700","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-nucleotide polymorphism array and fluorescence in situ hybridization analysis to decode the cytogenetic profile of atypical partial hydatidiform moles diagnosed by short tandem repeat polymorphism analysis","authors":"Yoshiya Suzuki,&nbsp;Hirokazu Usui,&nbsp;Eri Katayama,&nbsp;Asuka Sato,&nbsp;Natsuko Nakamura,&nbsp;Emiri Nakada,&nbsp;Akiko Omoto,&nbsp;Jun Okayama,&nbsp;Mika Sato,&nbsp;Akiko Nagasawa,&nbsp;Akiko Hirosawa,&nbsp;Makio Shozu,&nbsp;Kaori Koga","doi":"10.1002/gcc.23220","DOIUrl":"https://doi.org/10.1002/gcc.23220","url":null,"abstract":"<p>Accurate diagnosis of partial hydatidiform moles (PHMs) is crucial for improving outcomes of gestational trophoblastic neoplasia. The use of short tandem repeat (STR) polymorphism analysis to distinguish between PHM and hydropic abortuses is instrumental; however, its diagnostic power has not been comprehensively assessed. Herein, we evaluated the diagnostic efficacy of STR in differentiating between PHM and hydropic abortus, thus providing an opportunity for early measurement of human chorionic gonadotropin for PHMs. We reviewed charts of STR polymorphism analysis performed on fresh villous specimens and patient blood samples using a commercial kit for 16 loci. The genetic classification of 79 PHMs was confirmed. STR was reliable in differentiating PHMs when at least 15 loci were available. Typically, PHMs are characterized by their triploidy, including two paternal and one maternal haploid contribution. In our sample, seven PHMs lacked the three-allelic loci, requiring fluorescence in situ hybridization (FISH) analysis to investigate imbalanced biparental conceptus and single-nucleotide polymorphism array analysis to reveal cytogenetic details. Of these PHMs, two, three, and one were identified as androgenetic/biparental mosaics (diploids), monospermic diandric monogynic triploids, and a typical dispermic diandric monogynic triploid, respectively. The remaining case was monospermic origin, but its ploidy details could not be available. Therefore, STR differentiated PHM from a biparental diploid abortus in most cases. However, PHM diagnosis may be compromised when STR is used as the sole method for cases displaying distinct cytogenetic patterns lacking the three-allelic loci, including androgenetic/biparental mosaicism. Therefore, FISH should be considered to confirm the diagnosis.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139704683","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":"Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature","authors":"Silvia Vallese,&nbsp;Chantal Tancredi,&nbsp;Isabella Giovannoni,&nbsp;Andrea Diociaiuti,&nbsp;Alessandra Stracuzzi,&nbsp;Sabrina Rossi,&nbsp;Rita Alaggio,&nbsp;Sabina Barresi","doi":"10.1002/gcc.23224","DOIUrl":"https://doi.org/10.1002/gcc.23224","url":null,"abstract":"<p>Fibroblastic/myofibroblastic tumors encompass a wide spectrum of lesions. Among them, plexiform myofibroblastoma (PM) represents a rare and distinctive entity recently described as mostly occurring in children and with a favorable prognosis. Histologically, PM shows SMA, CD34, and desmin expression in most cases, while it is negative for β-catenin and S100. To date, the molecular mechanisms underlying PM tumorigenesis remain largely unknown. Herein, we describe a 7-year-old girl with a myofibroblastic lesion with plexiform features arising in the right deltoid region. The tumor proved positive for SMA staining, in absence of desmin, CD34, S100, and EMA expression. RNAseq analysis revealed a novel in-frame <i>SH3PXD2B::FER</i> fusion gene. The <i>FER</i> gene encodes a cytoplasmic tyrosine kinase which is implicated in several biologically aggressive tumors, where it is overexpressed and associated with EGFR recycling and stabilization. In our case, immunohistochemical analysis revealed a strong positivity for EGFR indicating an upregulation of <i>EGFR</i> transcription that might correlate with the novel chimeric protein involving the FER kinase domain. To our knowledge, the <i>SH3PXD2B::FER</i> fusion has never been reported previously. Whether the current case represents an example of a plexiform myofibroblastic tumor or a distinct tumor entity remains to be determined.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716863","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":"A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification","authors":"Ellen Deolet,&nbsp;Fleur Cordier,&nbsp;Liesbeth Ferdinande,&nbsp;Siebe Loontiens,&nbsp;Joni Van der Meulen,&nbsp;Jo Van Dorpe,&nbsp;David Creytens","doi":"10.1002/gcc.23225","DOIUrl":"https://doi.org/10.1002/gcc.23225","url":null,"abstract":"","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716864","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":"Polymorphisms of the PD-L1 gene 3′-untranslated region are associated with the expression of PD-L1 in non-small cell lung cancer","authors":"Yoshihito Ohhara,&nbsp;Utano Tomaru,&nbsp;Ichiro Kinoshita,&nbsp;Kanako C. Hatanaka,&nbsp;Takuro Noguchi,&nbsp;Yutaka Hatanaka,&nbsp;Toraji Amono,&nbsp;Yoshihiro Matsuno,&nbsp;Hirotoshi Dosaka-Akita","doi":"10.1002/gcc.23216","DOIUrl":"https://doi.org/10.1002/gcc.23216","url":null,"abstract":"<p>Recent results show that polymorphisms of programmed death ligand 1 (PD-L1, also known as CD274 or B7-H1) might be used as a possible marker for effectiveness of chemotherapy and cancer risk. However, the effect of <i>PD-L1</i> gene variations on PD-L1 expression remain unclear. Given the post-transcriptional machinery in tumor PD-L1 expression, we investigated single nucleotide polymorphisms (SNPs) in the 3′-untranslated region (3′-UTR) of the <i>PD-L1</i> gene, rs4143815 and rs4742098, using formalin-fixed paraffin-embedded sections of 154 patients with non-small cell lung cancers (NSCLCs). In rs4143815, the GG genotype showed significant association with PD-L1 expression (<i>P</i> = 0.032). In rs4742098, the AA genotype was significantly associated with histology and PD-L1 expression (<i>P</i> = 0.022 and <i>P</i> = 0.008, respectively). In multivariate logistic regression analysis, the AA genotype in rs4742098 was correlated with PD-L1 expression (odds ratio 0.408, <i>P</i> = 0.048). Interestingly, approximately 10% of the NSCLC cases showed somatic mutation when we compared genotypes of these SNPs between NSCLC tissues and non-tumor tissues from the same patients. In addition, cases with somatic mutation showed higher levels of PD-L1 expression than cases with germline mutation in rs4143815 GG. In conclusion, we demonstrated that the rs4143815 and rs4742098 SNPs in the 3′-UTR of PD-L1 were associated with tumor PD-L1 expression in NSCLCs.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 1","pages":""},"PeriodicalIF":3.7,"publicationDate":"2023-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139047517","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":"The impact of an additional copy of chromosome 21 in B-cell precursor acute lymphoblastic leukemia","authors":"Femke M. Hormann,&nbsp;Eva J. Mooij,&nbsp;Marieke van de Mheen,&nbsp;H. Berna Beverloo,&nbsp;Monique L. den Boer,&nbsp;Judith M. Boer","doi":"10.1002/gcc.23217","DOIUrl":"10.1002/gcc.23217","url":null,"abstract":"<p>A common finding in pediatric B-cell precursor acute lymphoblastic leukemia (BCPALL) is that chromosome 21 is never lost and an extra chromosome 21 is often gained. This implies an important role for chromosome 21 in the pathobiology of BCPALL, emphasized by the increased risk of BCPALL in children with Down syndrome. However, model systems of chromosome 21 gain are lacking. We therefore developed a BCPALL cell line (Nalm-6, <i>DUX4</i>-rearranged) with an additional chromosome 21 by means of microcell-mediated chromosome transfer. FISH, PCR, multiplex ligation-dependent probe amplification, and whole exome sequencing showed that an additional chromosome 21 was successfully transferred to the recipient cells. Transcription of some but not all genes on chromosome 21 was increased, indicating tight transcriptional regulation. Nalm-6 cells with an additional chromosome 21 proliferated slightly slower compared with parental Nalm-6 and sensitivity to induction chemotherapeutics was mildly increased. The extra copy of chromosome 21 did not confer sensitivity to targeted signaling inhibitors. In conclusion, a BCPALL cell line with an additional human chromosome 21 was developed, validated, and subjected to functional studies, which showed a minor but potentially relevant effect in vitro. This cell line offers the possibility to study further the role of chromosome 21 in ALL.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 1","pages":""},"PeriodicalIF":3.7,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23217","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138801428","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":"Expanding the molecular landscape of undifferentiated sarcomas of bone with a novel EWSR1-SSX3 gene fusion","authors":"Caterina Fumagalli,&nbsp;Ruth Orellana,&nbsp;Malena Ferré,&nbsp;Allan Gonzalez,&nbsp;Lluis Catasús,&nbsp;Tania Vázquez,&nbsp;Ana Sebio,&nbsp;Antonio López-Pousa,&nbsp;Jaume Llauger,&nbsp;Ana Peiró,&nbsp;Cristina R. Antonescu","doi":"10.1002/gcc.23215","DOIUrl":"10.1002/gcc.23215","url":null,"abstract":"<p>Undifferentiated sarcomas characterized by a primitive monomorphic round to spindle cell phenotype and often non-specific immunoprofile remain difficult to subclassify outside molecular analysis. The increased application of RNA sequencing in clinical practice led to significant advances and discoveries of novel gene fusions that furthered our understanding and refined classification of otherwise undifferentiated neoplasms. In this study, we report an undifferentiated round to spindle cell sarcoma arising in the femur of a 34-year-old female. The round to spindle tumor cells were arranged in short fascicles, with focal rosette formation, within a hyalinized stroma. The tumor immunoprofile included diffuse reactivity for CD99, SATB2, and TLE1 and patchy positivity for Cyclin D1, Keratin AE1/AE3, synaptophysin, and chromogranin. Other markers, such as EMA, SMA, desmin, S100, ERG, and WT1, were negative. Fluorescence in situ hybridization analysis for <i>EWSR1</i> gene alterations showed a break-apart signal and targeted RNA sequencing revealed an <i>EWSR1::SSX3</i> gene fusion. The patient received neoadjuvant chemotherapy followed by surgery and subsequently relapsed in less than a year with lung metastasis. Larger series are needed to determine if this fusion defines a novel subset of undifferentiated tumors or represents a genomic variant of already existing primitive round cell sarcoma categories, such as Ewing sarcoma or synovial sarcoma.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 1","pages":""},"PeriodicalIF":3.7,"publicationDate":"2023-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138487299","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":"Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases","authors":"Nils Mandahl,&nbsp;Fredrik Mertens,&nbsp;Felix Mitelman","doi":"10.1002/gcc.23214","DOIUrl":"10.1002/gcc.23214","url":null,"abstract":"<p>Gene amplification is a crucial process in cancer development, leading to the overexpression of oncogenes. It manifests cytogenetically as extrachromosomal double minutes (dmin), homogeneously staining regions (hsr), or ring chromosomes (r). This study investigates the prevalence and distribution of these amplification markers in a survey of 80 131 neoplasms spanning hematologic disorders, and benign and malignant solid tumors. The study reveals distinct variations in the frequency of dmin, hsr, and r among different tumor types. Rings were the most common (3.4%) sign of amplification, followed by dmin (1.3%), and hsr (0.8%). Rings were particularly frequent in malignant mesenchymal tumors, especially liposarcomas (47.5%) and osteosarcomas (23.4%), dmin were prevalent in neuroblastoma (30.9%) and pancreatic carcinoma (21.9%), and hsr frequencies were highest in head and neck carcinoma (14.0%) and neuroblastoma (9.0%). Combining all three amplification markers (dmin/hsr/r), malignant solid tumors consistently exhibited higher frequencies than hematologic disorders and benign solid tumors. The structural characteristics of these amplification markers and their potential role in tumorigenesis and tumor progression highlight the complex interplay between cancer-initiating gene-level alterations, for example, fusion genes, and subsequent amplification dynamics. Further research integrating cytogenetic and molecular approaches is warranted to better understand the underlying mechanisms of these amplifications, in particular, the enigmatic question of why certain malignancies display certain types of amplification. Comparing the present results with molecular genetic data proved challenging because of the diversity in definitions of amplification across studies. This study underscores the need for standardized definitions in future work.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 1","pages":""},"PeriodicalIF":3.7,"publicationDate":"2023-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23214","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138487319","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}