自引率: 3.8%
被引量: 4930
通过率: 暂无数据
审稿周期: 1
版面费用: 暂无数据
国人发稿量: 7
投稿须知/期刊简介:
Genes Chromosomes & Cancer will offer rapid publication of original full-length research articles brief communications perspectives reviews letters to the editors as well as editorial commentaries on genetic analysis as related to the study of neoplasia. Particular emphasis will be placed on work combining molecular and cytogenetic analyses of the genomic alterations of cancer cells. While preference will be given to research using analytical approaches descriptive studies and case reports will also be welcomed particularly when they offer insights regarding basic biologic mechanisms or the clinical management of neoplastic disorders. Specific areas covered will include: Chromosomal abnormalities in all benign and malignant disorders including changes that occur during neoplastic progression Changes in gene structure and regulation as a consequence of genomic rearrangements Chromosomal alterations involving genes related to the regulation of cell proliferation and differentiation The correlation between genomic abnormalities and cellular phenotypic alterations The predictive value of alterations at the chromosomal and DNA levels in disease prognosis and in designing and monitoring cancer therapies Cytogenetic molecular and epidemiologic analyses of inherited disorders predisposing to cancer Chromosomal and/or genetic damage caused by external factors Descriptions of novel molecular biological and cytogenetic methods for genomic analysis.
期刊描述简介:
Genes Chromosomes & Cancer will offer rapid publication of original full-length research articles brief communications perspectives reviews letters to the editors as well as editorial commentaries on genetic analysis as related to the study of neoplasia. Particular emphasis will be placed on work combining molecular and cytogenetic analyses of the genomic alterations of cancer cells. While preference will be given to research using analytical approaches descriptive studies and case reports will also be welcomed particularly when they offer insights regarding basic biologic mechanisms or the clinical management of neoplastic disorders. Specific areas covered will include: Chromosomal abnormalities in all benign and malignant disorders including changes that occur during neoplastic progression Changes in gene structure and regulation as a consequence of genomic rearrangements Chromosomal alterations involving genes related to the regulation of cell proliferation and differentiation The correlation between genomic abnormalities and cellular phenotypic alterations The predictive value of alterations at the chromosomal and DNA levels in disease prognosis and in designing and monitoring cancer therapies Cytogenetic molecular and epidemiologic analyses of inherited disorders predisposing to cancer Chromosomal and/or genetic damage caused by external factors Descriptions of novel molecular biological and cytogenetic methods for genomic analysis.
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Diagnostic and Therapeutic Implications of a FUS::TFCP2 Fusion and ALK Activation in a Metastatic Rhabdomyosarcoma.
被引量：- 发表：2024
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Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes.
A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) genes, APC and MUTYH. Recently, a certain number of potential predisposition genes have been suggested, involving each a small number of cases reported so far. Here, we describe the detection of rare variants in the NTLH1, AXIN2, RNF43, BUB1, and TP53 genes in nine unrelated patients who were suspected for inherited CRC and/or colonic polyposis. Seven of them were classified as pathogenic or likely pathogenic variants (PV/LPV). Clinical manifestations of carriers were largely consistent with reported cases with, nevertheless, distinct characteristics. PV/LPV in these uncommon gene can be responsible for up to 2.7% of inherited CRC or colonic polyposis syndromes. Our findings provide supporting evidence for the role of these genes in cancer predisposition, and contribute to the determination of related cancer spectrum and cancer risk for carriers, allowing for the establishment of appropriate screening strategy and genetic counseling in affected families.
被引量：1 发表：2024
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Genetic Heterogeneity in Cellular Angiofibromas.
Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma. Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing. The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the RB1 gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (PLAG1). In tumor 2, the cathepsin B (CTSB) fused to PLAG1 (CTSB::PLAG1) while in tumor 3, the mir-99a-let-7c cluster host gene (MIR99AHG) fused to PLAG1 (MIR99AHG::PLAG1), both leading to elevated expression of PLAG1 and insulin growth factor 2. This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves PLAG1-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.
被引量：- 发表：2024
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Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion.
Erythroid sarcoma (ES) is exceedingly rare in the pediatric population with only a handful of reports of de novo cases, mostly occurring in the central nervous system (CNS) or orbit. It is clinically and pathologically challenging and can masquerade as a nonhematopoietic small round blue cell tumor. Clinical presentation of ES without bone marrow involvement makes diagnosis particularly difficult. We describe a 22-month-old female with ES who presented with a 2-cm mass involving the left parotid region and CNS. The presence of crush/fixation artifact from the initial biopsy made definitive classification of this highly proliferative and malignant neoplasm challenging despite an extensive immunohistochemical workup. Molecular studies including RNA-sequencing revealed a NFIA::CBFA2T3 fusion. This fusion has been identified in several cases of de novo acute erythroid leukemia (AEL) and gene expression analysis comparing this case to other AELs revealed a similar transcriptional profile. Given the diagnostically challenging nature of this tumor, clinical RNA-sequencing was essential for establishing a diagnosis.
被引量：- 发表：2024
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Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma.
被引量：- 发表：2024
