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RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-26 DOI: 10.1016/j.cancergen.2025.02.013
Stephanie Ka Lun Ho , Grace Pui Yung Tong , Lai-Ting Leung , Shirley Sze Wing Cheng , Eric Chun Ho Fu , Ivan Fai Man Lo , Anthony Pak Yin Liu , Ho-ming Luk
{"title":"RECQL4-related Rothmund-Thomson syndrome: A case series and literature review","authors":"Stephanie Ka Lun Ho ,&nbsp;Grace Pui Yung Tong ,&nbsp;Lai-Ting Leung ,&nbsp;Shirley Sze Wing Cheng ,&nbsp;Eric Chun Ho Fu ,&nbsp;Ivan Fai Man Lo ,&nbsp;Anthony Pak Yin Liu ,&nbsp;Ho-ming Luk","doi":"10.1016/j.cancergen.2025.02.013","DOIUrl":"10.1016/j.cancergen.2025.02.013","url":null,"abstract":"<div><div>Rothmund-Thomson syndrome (RTS) is a multisystemic tumour-predisposing genodermatosis caused by biallelic pathogenic alterations in the <em>ANAPC1</em> gene or <em>RECQL4</em> gene. Herein we describe the clinical and genetic findings in three individuals with molecularly substantiated <em>RECQL4</em>-related RTS. Based on the disease course of two patients with osteosarcoma, we highlight the critical importance of early diagnosis.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 131-136"},"PeriodicalIF":1.4,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143527507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MicroRNA dysregulation and target genes in common spinal tumors
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-21 DOI: 10.1016/j.cancergen.2025.02.011
Razieh Tavakoli Oliaee , Majid Reza Farrokhi , Hamid Moeeni , Rahele Tavakoly , Morteza Jafarinia , Farideh Iravanpour
{"title":"MicroRNA dysregulation and target genes in common spinal tumors","authors":"Razieh Tavakoli Oliaee ,&nbsp;Majid Reza Farrokhi ,&nbsp;Hamid Moeeni ,&nbsp;Rahele Tavakoly ,&nbsp;Morteza Jafarinia ,&nbsp;Farideh Iravanpour","doi":"10.1016/j.cancergen.2025.02.011","DOIUrl":"10.1016/j.cancergen.2025.02.011","url":null,"abstract":"<div><div>Spinal tumors, although rare, pose significant challenges in diagnosis and treatment due to their complex biological behavior and the variety of tumor types involved. MicroRNAs (miRNAs), small non-coding RNA molecules, have emerged as critical regulators of gene expression and play dual roles as oncogenes or tumor suppressors, depending on their target genes. This review comprehensively examines the role of miRNAs in the pathogenesis and progression of common spinal tumors, including ependymoma, astrocytoma, meningioma, and metastasis, based on existing studies using both human and in vitro models. Several miRNAs have been identified as dysregulated in these tumor types, influencing key cellular processes such as proliferation, migration, and apoptosis. The potential of miRNAs as diagnostic, prognostic, and therapeutic biomarkers is explored, highlighting their value in guiding personalized treatment approaches. Although promising, these findings require further validation to fully understand miRNA-mediated mechanisms and translate these insights into clinical applications. MiRNA-targeted therapies offer a promising avenue for improving patient outcomes in spinal tumor management.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 124-130"},"PeriodicalIF":1.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of T-cell acute lymphoblastic leukemia with co-occurrence of NUP214-ABL1 fusion and tetraploidy
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-19 DOI: 10.1016/j.cancergen.2025.02.009
Lijuan Zhu, Wei Zha, Jiajia Zhuo, Xia Yu
{"title":"A case of T-cell acute lymphoblastic leukemia with co-occurrence of NUP214-ABL1 fusion and tetraploidy","authors":"Lijuan Zhu,&nbsp;Wei Zha,&nbsp;Jiajia Zhuo,&nbsp;Xia Yu","doi":"10.1016/j.cancergen.2025.02.009","DOIUrl":"10.1016/j.cancergen.2025.02.009","url":null,"abstract":"<div><div>Although testing and treatment of blood malignancies have been standardized, additional unidentified genetic abnormalities often complicate the diagnosis and therapeutic outcome. Thus, improvement of contemporary therapy requires further stratification of patients based on detailed genetic information. Here, we describe an extremely rare case of Philadelphia chromosome-like T-cell acute lymphoblastic leukemia (Ph-like T-ALL) with NUP214-ABL1 fusion and presentation of unusually enlarged nuclei in the leukemic cells, which was attributed to tetraploidy. Despite receiving the protocol-guided induction chemotherapy, the patient did not respond favorably. The challenges in treating Ph-like T-ALL with rare genetic abnormalities, highlight the need of further research and personalized medication.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 116-119"},"PeriodicalIF":1.4,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143488758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical management of three JMML siblings with germline CBL variation
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-19 DOI: 10.1016/j.cancergen.2025.02.007
Nihat Bugra Agaoglu , Koray Yalcın , Busra Unal , Gizem Onder , Safiye Suna Celen , Suleimen Zhumatayev , Ugur Ozbek , Ozden Hatirnaz Ng
{"title":"Clinical management of three JMML siblings with germline CBL variation","authors":"Nihat Bugra Agaoglu ,&nbsp;Koray Yalcın ,&nbsp;Busra Unal ,&nbsp;Gizem Onder ,&nbsp;Safiye Suna Celen ,&nbsp;Suleimen Zhumatayev ,&nbsp;Ugur Ozbek ,&nbsp;Ozden Hatirnaz Ng","doi":"10.1016/j.cancergen.2025.02.007","DOIUrl":"10.1016/j.cancergen.2025.02.007","url":null,"abstract":"<div><div>Germline pathogenic variants (PVs) in <em>CBL</em> are found in 15 % of juvenile myelomonocytic leukemia (JMML) cases. Here we report three siblings with <em>CBL</em>(NM_005188):c.1111T&gt;C variation presenting a heterogenous JMML clinic and outcome. The index case was diagnosed at the age of seven, whereas the younger brother was 10 months old and the youngest was one month old. The hematopoietic stem cell transplantation was successful for the index and the youngest brother with event-free survival, but the middle brother showed severe graft versus host disease. This study shows the heterogeneity of JMML and how the outcome might differ even within the family.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 120-123"},"PeriodicalIF":1.4,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Three FGFR4 gene polymorphisms contribute to the susceptibility of urethral cancer in the middle and south of Iraq population
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-17 DOI: 10.1016/j.cancergen.2025.02.006
Zahraa Isam Jameel
{"title":"Three FGFR4 gene polymorphisms contribute to the susceptibility of urethral cancer in the middle and south of Iraq population","authors":"Zahraa Isam Jameel","doi":"10.1016/j.cancergen.2025.02.006","DOIUrl":"10.1016/j.cancergen.2025.02.006","url":null,"abstract":"<div><h3>Background</h3><div>Urothelial cell carcinoma is quite prevalent, making up close to 90 % of all cases. Men are more likely to suffer from it than women, and it mostly affects the elderly. Fibroblast growth factor receptor 4 (<em>FGFR4</em>) plays an important role in cell proliferation and cancer progression.</div></div><div><h3>Aim</h3><div>this study was conducted to assess the association between <em>FGFR4</em> gene polymorphism and the risk of Urothelial Cell Carcinoma in Iraq.</div></div><div><h3>Methods</h3><div>genomic DNA samples were extracted from a total 200 samples of blood. Three primers were designed to enhance three commonly observed genetic variation, rs2011077, rs351855, and rs1966265. The single strand conformation polymorphisms technique (SSCP) was genotyped and confirmed by further sequencing protocols.</div></div><div><h3>Results</h3><div>The results of this study show that cases with the G/A variant of the rs351855 genotype have a marked increase in risk to Urothelial Cell Carcinoma (<em>P</em> = 0.001, OR 0.32, 95 % CI 0.20 to 0.94). Cases with genotype rs2011077: TC has also associated with the increased the risk of UCC (<em>P</em> = 0.001, OR= 0.50, 95 % CI = 0.33 to 0.76). The Linkage Disequilibrium revealed a significant relationship between the T allele of the rs2011077 locus and the A allele of the rs351855 locus, leading to the formation of the TA haplotype in cases diagnosed with the UCC. Our results show that <em>FGFR</em>4 gene polymorphisms (rs351855 and rs2011077) have significant associations with increased risk of Urothelial Cell Carcinoma.</div></div><div><h3>Conclusion</h3><div>current study indicates that the specific polymorphisms have proven to be promising as a major genetic marker for identifying cases who may be more susceptible to diagnosis and recurrence Urothelial Cell Carcinoma.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 77-84"},"PeriodicalIF":1.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143437307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Complex genetic structural aberrations revealed by optical genome mapping in a case of APL-like morphology
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-15 DOI: 10.1016/j.cancergen.2025.02.005
Shivaprasad H. Sathyanarayana , Michelle A. Bickford , Narcisa A. Smuliac , Kyle A. Tonseth , Farzana Murad , Jing Bao , Heather B. Steinmetz , Matthew R. Sullivan , Prabhjot Kaur , Jeremiah X. Karrs , Wahab A. Khan
{"title":"Complex genetic structural aberrations revealed by optical genome mapping in a case of APL-like morphology","authors":"Shivaprasad H. Sathyanarayana ,&nbsp;Michelle A. Bickford ,&nbsp;Narcisa A. Smuliac ,&nbsp;Kyle A. Tonseth ,&nbsp;Farzana Murad ,&nbsp;Jing Bao ,&nbsp;Heather B. Steinmetz ,&nbsp;Matthew R. Sullivan ,&nbsp;Prabhjot Kaur ,&nbsp;Jeremiah X. Karrs ,&nbsp;Wahab A. Khan","doi":"10.1016/j.cancergen.2025.02.005","DOIUrl":"10.1016/j.cancergen.2025.02.005","url":null,"abstract":"<div><div>We present a detailed cytogenomic analysis from a patient with suspected acute promyelocytic leukemia (APL), based on morphological and immunophenotypic characteristics. Initial testing with fluorescence in situ hybridization (FISH) and chromosome analysis was negative for the canonical <em>PML::RARA</em> and other <em>RARA</em> partners translocations. Polymerase chain reaction (PCR) did not detect <em>PML::RARA</em> transcripts. However, chromosome analysis results revealed loss of 5q and 17p, as well as the presence of double minutes (dmin). To further assess the involvement of other retinoic acid receptor (RAR) partners, such as <em>RARB</em> and <em>RARG</em>, and to elucidate the origin of the dmin, we conducted genome-wide structural variant analysis (gwSVA) using optical genome mapping (OGM) as part of a research and confirmatory follow-up. Using gwSVA, we identified the double minutes to be of <em>MYC</em> origin, with approximately 44 copies. Additionally, gwSVA revealed a loss of <em>TP53</em>, along with polyploidy showing loss of chromosomes 1, 2, 8, 9 (including <em>CDKN2A</em>), 10, 11, 15 and gains of chromosomes 3, 6, and 7 indicating distinct clonal events in a diagnostic and follow up bone marrow. Next generation sequencing (NGS) with an exome-based heme targeted panel identified a Tier I deleterious <em>TP53</em> single nucleotide variant (p.S241C). The follow-up bone marrow analyzed with gwSVA, four months post-induction therapy, showed a reduction in number of cells exhibiting <em>MYC</em> amplification. This study provides a rare instance of a <em>TP53</em> positive case with APL-like bone marrow morphology, no <em>RARA</em> rearrangement, and <em>MYC</em> amplification. It further lends evidence towards comprehensive cytogenomic and molecular analyses for accurate risk stratification and subsequent disease tracking.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 111-115"},"PeriodicalIF":1.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143478793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MYC-r with a non-IG partner concurrently with a cryptic t(12;21) in B-lymphoblastic leukemia: A case and prognostic significance
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-15 DOI: 10.1016/j.cancergen.2025.01.008
Prasad Koduru , Weina Chen , Franklin Fuda , Martha Pacheco , Rolando Garcia
{"title":"MYC-r with a non-IG partner concurrently with a cryptic t(12;21) in B-lymphoblastic leukemia: A case and prognostic significance","authors":"Prasad Koduru ,&nbsp;Weina Chen ,&nbsp;Franklin Fuda ,&nbsp;Martha Pacheco ,&nbsp;Rolando Garcia","doi":"10.1016/j.cancergen.2025.01.008","DOIUrl":"10.1016/j.cancergen.2025.01.008","url":null,"abstract":"<div><div>B-lymphoblastic leukemia (B-ALL) in children is characterized by recurrent chromosomal rearrangements that mostly have prognostic value. <em>MYC</em> rearrangements (<em>MYC</em>-r), typically associated with Burkitt lymphoma or mature B-cell neoplasms are infrequent in B-ALL. We report here a unique case of childhood B-ALL with concurrent <em>MYC</em>-r with a non-<em>IG</em> partner and a cryptic t(12;21). Leukemic cells had lymphoblastic morphology. Immunophenotypically, leukemic blasts were CD10 (+, slightly bright), CD15 (few +), CD19 (+), CD20 (+, partial), CD22 (+), CD34 (-), CD38 (+, slightly variably), CD45 (+, partial), cytoplasmic CD79a (+), HLA-DR (+), surface Ig (-), MPO (-), and TdT (+, partially). This immunophenotype was consistent with B-ALL. Cytogenetically, the karyotype was complex including a t(4;8)(q31;q24), and FISH analysis showed <em>MYC</em>-r, <em>ETV6</em>::<em>RUNX1</em> and loss of <em>ETV6</em> allele. The patient has been in complete remission for 11 years following the diagnosis. We reviewed cases of B-ALL with double leukemogenic alterations and <em>MYC</em>-r with non-<em>IG</em> partners to understand the clinical outcome in these rare patients.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 85-91"},"PeriodicalIF":1.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143444995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integrating radiomics and gene expression by mapping on the image with improved DeepInsight for clear cell renal cell carcinoma
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-14 DOI: 10.1016/j.cancergen.2025.02.004
Daisuke Kawahara , Misato Kishi , Yuzuha Kadooka , Kota Hirose , Yuji Murakami
{"title":"Integrating radiomics and gene expression by mapping on the image with improved DeepInsight for clear cell renal cell carcinoma","authors":"Daisuke Kawahara ,&nbsp;Misato Kishi ,&nbsp;Yuzuha Kadooka ,&nbsp;Kota Hirose ,&nbsp;Yuji Murakami","doi":"10.1016/j.cancergen.2025.02.004","DOIUrl":"10.1016/j.cancergen.2025.02.004","url":null,"abstract":"<div><h3>Background</h3><div>Radiomics analysis extracts high-dimensional features from medical images, which are used to predict outcomes in machine learning (ML). Recently, deep-learning methods have become applicable to image data converted from nonimage samples.</div></div><div><h3>Purpose</h3><div>This study conducted a comparative analysis of outcome-prediction performance using radiomics with a conventional ML approach and deep-learning (DL) approach utilising DeepInsight. Furthermore, we enhance the DeepInsight model by integrating radiomics features with gene expression data. This integration aims to improve predictive power and provide a more comprehensive understanding of ccRCC, ultimately contributing to more personalized and effective treatment strategies.</div></div><div><h3>Methods</h3><div>A total of 142 patients with clear cell renal cell carcinoma who underwent surgery were divided into training and test datasets. Radiomics features were extracted in the entire tumour region from CT images. The two-year disease-free survival was predicted using ML and DL. ML was used for selective features after LASSO regression. ML algorithms were employed for classification, including the support vector machine, k-nearest neighbour, and neural network classifiers. For DL, radiomics features and gene-expression data were converted into image data with DeepInsight, and classification tasks were performed with DL techniques such as AlexNet, SqueezeNet, and InceptionNet.</div></div><div><h3>Results</h3><div>For ML, 17 prognosis-related radiomic features were selected from the LASSO regression. The ML accuracy was 76.5 %, 71.4 %, and 78.1 % for the support vector machine, k-nearest neighbour, and neural network models, respectively. For DL, the accuracies were 76.7 %, 83.1 %, and 85.4 % for AlexNet, SqueezeNet, and InceptionNet, respectively. Furthermore, the integrated DeepInsight models exhibited the highest accuracy of 90.9 %.</div></div><div><h3>Conclusion</h3><div>The proposed DL approach utilising DeepInsight demonstrated a significant improvement in outcome-prediction performance compared with the conventional ML approach. Furthermore, the integration of DL with radiomics features and gene-expression data effectively captures the relationship between biological information and image data, rendering it a promising tool for enhancing outcome-prediction capabilities.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 100-105"},"PeriodicalIF":1.4,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143454964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel Co-frameshift mutations in N- and C-terminal regions of CEBPA in acute myeloid leukemia: A case report
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-11 DOI: 10.1016/j.cancergen.2025.02.003
Mohammad Mousaei Ghasroldasht , Shiva Vaheb Hosseinabadi , Razieh Ebrahimi Askari , Reihaneh Lotfalipour
{"title":"Novel Co-frameshift mutations in N- and C-terminal regions of CEBPA in acute myeloid leukemia: A case report","authors":"Mohammad Mousaei Ghasroldasht ,&nbsp;Shiva Vaheb Hosseinabadi ,&nbsp;Razieh Ebrahimi Askari ,&nbsp;Reihaneh Lotfalipour","doi":"10.1016/j.cancergen.2025.02.003","DOIUrl":"10.1016/j.cancergen.2025.02.003","url":null,"abstract":"<div><div>Acute myeloid leukemia (AML) is a hematologic malignancy marked by abnormal myeloid cell proliferation or differentiation arrest in the bone marrow. AML prognosis is influenced by genetic mutations, including in NPM1, FLT3-ITD, cKIT, and CEBPA genes. CEBPA, located on chromosome 19q13.11, is critical for myeloid differentiation in the hematopoietic system, and mutations in this gene occur in about 10–15 % of de novo AML cases. These mutations often appear as frameshift alterations in the N-terminal or in-frame insertions/deletions in the C-terminal basic leucine zipper (bZIP) domain. We report a unique CEBPA mutation profile in a 19-year-old male with AML, normal karyotype, and no mutations in FLT3-ITD, NPM1, or cKIT. The patient exhibited a frameshift mutation in the N-terminal region and a novel in-frame duplication in the C-terminal regions of CEBPA, which has not been previously reported in AML. This case emphasizes the importance of genetic profiling in identifying clinically relevant mutation patterns and highlights the potential of genetic insights to inform personalized treatment. It also underscores the need for further studies on the functional implications of unique CEBPA mutations in AML pathogenesis.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 73-76"},"PeriodicalIF":1.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143420236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome
IF 1.4 4区 医学
Cancer Genetics Pub Date : 2025-02-10 DOI: 10.1016/j.cancergen.2025.01.009
Lauren R. Desrosiers-Battu , John H. Lee , Izabela Tarasiewicz , Andrea R. Gilbert , Eva M Galvan , Achint K. Singh , Angshumoy Roy , George Miles , Jacquelyn Reuther , Donna M. Muzny , Bo Yuan , Shashikant Kulkarni , Christine Eng , Sarah Scollon , Shawn Gessay , Amy L. McGuire , D. Williams Parsons , Gail E. Tomlinson , Sharon E. Plon , Shafqat Shah
{"title":"Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome","authors":"Lauren R. Desrosiers-Battu ,&nbsp;John H. Lee ,&nbsp;Izabela Tarasiewicz ,&nbsp;Andrea R. Gilbert ,&nbsp;Eva M Galvan ,&nbsp;Achint K. Singh ,&nbsp;Angshumoy Roy ,&nbsp;George Miles ,&nbsp;Jacquelyn Reuther ,&nbsp;Donna M. Muzny ,&nbsp;Bo Yuan ,&nbsp;Shashikant Kulkarni ,&nbsp;Christine Eng ,&nbsp;Sarah Scollon ,&nbsp;Shawn Gessay ,&nbsp;Amy L. McGuire ,&nbsp;D. Williams Parsons ,&nbsp;Gail E. Tomlinson ,&nbsp;Sharon E. Plon ,&nbsp;Shafqat Shah","doi":"10.1016/j.cancergen.2025.01.009","DOIUrl":"10.1016/j.cancergen.2025.01.009","url":null,"abstract":"<div><div>Meningiomas are the most common primary brain tumors in adults but much less frequent in children. Many subtypes exist, including anaplastic (malignant) meningioma, which accounts for less than 20% of pediatric tumors. Meningiomas can arise in association with cancer predisposition syndromes due to germline variants in genes such as <em>NF2, MEN1</em> and <em>SMARCE1</em>. This report describes a 6-year-old boy diagnosed with anaplastic meningioma who was treated with surgery and focal radiation therapy. The family consented to participate in the Texas KidsCanSeq clinical genomics study. Analysis of germline and tumor samples detected a single germline finding of a <em>CDKN1B</em> pathogenic frameshift variant associated with Multiple Endocrine Neoplasia Type 4 (MEN4) without somatic loss of the other allele. Tumor analysis revealed a <em>YAP1</em>::<em>MAML2</em> fusion, which has been previously reported in pediatric meningiomas not associated with NF2. <em>YAP1</em>::<em>MAML2</em> fusion is a known driver for development of meningioma, but the role of the germline <em>CDKN1B</em> variant in the absence of a tumor second hit is unclear. This case highlights the importance of performing combined tumor and germline molecular genetic analysis of rare tumors to help clarify the risk of development of cancer in patients with rare cancer predisposition syndromes.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 106-110"},"PeriodicalIF":1.4,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143465373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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