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Assessment for 11q and other chromosomal aberrations in large B-cell/high-grade B cell lymphomas of germinal center phenotype lacking BCL2 expression Cancer Genet. (IF 1.9) Pub Date : 2024-03-16 Chia-Chen Ho, Kikkeri Naresh, Yajuan Liu, Yu Wu, Ajay K Gopal, Ashley M Eckel
The WHO classifications of hematolymphoid malignancies have recognized several distinct entities within the large B cell lymphomas, including the more recently described high-grade B cell lymphoma with 11q aberration (HGBCL-11q). We utilized genomic array to assess for chromosome 11q abnormalities in a broad set of aggressive B cell lymphomas from 27 patients with a focus on younger adults. The findings
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Upregulation of shelterin and CST genes and longer telomeres are associated with unfavorable prognostic characteristics in prostate cancer Cancer Genet. (IF 1.9) Pub Date : 2024-03-16 Gabriel Arantes dos Santos, Nayara I Viana, Ruan Pimenta, Juliana Alves de Camargo, Vanessa R Guimaraes, Poliana Romão, Patrícia Candido, Vinicius Genuino dos Santos, Vitória Ghazarian, Sabrina T Reis, Katia Ramos Moreira Leite, Miguel Srougi
Search for new clinical biomarkers targets in prostate cancer (PC) is urgent. Telomeres might be one of these targets. Telomeres are the extremities of linear chromosomes, essential for genome stability and control of cell divisions. Telomere homeostasis relies on the proper functioning of shelterin and CST complexes. Telomeric dysfunction and abnormal expression of its components are reported in most
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Rare NUP98::PRRX1 fusion transcript in a therapy-related acute myeloid leukemia associated with del(7q) following chemotherapy for diffuse large B-cell lymphoma Cancer Genet. (IF 1.9) Pub Date : 2024-03-12 Yanfang Wang, Zhenhao Zhang, Lingli Wang, Hua Wang, Fei Dong
Therapy-related acute myeloid leukemia (t-AML) is increasingly recognized as a treatment complication in patients receiving chemotherapy, radiotherapy, or immunosuppressive agents for primary neoplasms. NUP98::PRRX1 fusion gene, caused by t(1;11)(q23;p15), is a rare recurrent cytogenetic alteration in leukemia, and only seven cases with NUP98::PRRX1 were reported so far. A 53-year-old female patient
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Successful treatment of the first adult case of ZMIZ1::ABL1-positive B cell lymphoblastic leukemia with dasatinib, chimeric antigen receptor T-cell therapy, and allogeneic hematopoietic stem cell transplantation Cancer Genet. (IF 1.9) Pub Date : 2024-03-08 Xue Chen, Lili Yuan, Xiaoli Ma, Panxiang Cao, Fang Wang, Yang Zhang, Jiaqi Chen, Xian Zhang, Yanli Zhao, Hongxing Liu
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Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation Cancer Genet. (IF 1.9) Pub Date : 2024-03-07 M Poscente, D Tolomeo, A Arshadi, A Agostini, A L'Abbate, A.G. Solimando, O Palumbo, M Carella, P Palumbo, T González, JM Hernández-Rivas, L Bassi, R Isidori, M Dell'Aquila, G Trapè, R Latagliata, G Pessina, F Natoni, CT Storlazzi
Systemic mastocytosis (SM) is a myeloproliferative neoplasm displaying abnormal mast cell proliferation. It is subdivided into different forms, including aggressive systemic mastocytosis (ASM) and systemic mastocytosis with an associated hematologic neoplasm (SM-AHN). Oncogenic genetic alterations include point mutations, mainly the D816V, conferring poor prognosis and therapy resistance, and fusion
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t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : A case report and literature review Cancer Genet. (IF 1.9) Pub Date : 2024-03-06 Bingbing Han, Yu Jing, Xiaoyu Bi, Yani Lin, Huilan Li, Hongyu Li, Kun Ru, Shaobin Yang
Chromosomal translocation serves as a crucial diagnostic marker in the classification of acute myeloid leukemia. Among the most prevalent cytogenetic abnormalities is t(8;21)(q22;q22), typically associated with the FAB subtype AML-M2. On occasion, alternative forms of t(8;21) have been observed. This report presents a case of AML with , wherein the karyotype revealed t(2;;21;8)(p21;q37;q22;q22), representing
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The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer Cancer Genet. (IF 1.9) Pub Date : 2023-12-25 Atousa Ghorbani, Fatemeh Hosseinie, Saeideh Khorshid Sokhangouy, Muhammad Islampanah, Fatemeh khojasteh-Leylakoohi, Mina Maftooh, Mohammadreza Nassiri, Seyed Mahdi Hassanian, Majid Ghayour-Mobarhan, Gordon A Ferns, Majid Khazaei, Elham Nazari, Amir Avan
Gastric cancer (GC), ranking as the third deadliest cancer globally, faces challenges of late diagnosis and limited treatment efficacy. Long non-coding RNAs (lncRNAs) emerge as valuable treasured targets for cancer prognosis, diagnosis, and therapy, given their high specificity, convenient non-invasive detection in body fluids, and crucial roles in diverse physiological and pathological processes.
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Simultaneous occurrence of multiple myeloma and acute myeloid leukemia: Case report and literature review Cancer Genet. (IF 1.9) Pub Date : 2023-12-23 Feng Li, Feifei Yang, Xiuqun Zhang, Shibin Cao, Yanli Xu
Multiple myeloma (MM) and acute myeloid leukemia (AML) are malignant clonal diseases of cells in different lineages. It remains very rare to have both diseases at first diagnosis. Only 24 cases of this situation were reported from 1971 to 2021, and poor prognosis in most cases. However, here we describe a case of MM and AML occurring simultaneously in a 65-year-old woman. We have successfully used
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Combination of minimal residual disease on day 15 and copy number alterations results in BCR-ABL1-negative pediatric B-ALL: A powerful tool for prediction of induction failure Cancer Genet. (IF 1.9) Pub Date : 2023-12-22 Hamed Baghdadi, Masoud Soleimani, Mahdi Zavvar, Gholamreza Bahoush, Behzad Poopak
The current genomic abnormalities provide prognostic value in pediatric Acute Lymphoblastic Leukemia (ALL). Furthermore, Copy Number Alteration (CNA) has recently been used to improve the genetic risk stratification of patients. This study aimed to evaluate CNA profiles in BCR-ABL1-negative pediatric B-ALL patients and correlate the data with Minimal Residual Disease (MRD) results after induction therapy
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Development of a molecular barcode detection system for pancreaticobiliary malignancies and comparison with next-generation sequencing Cancer Genet. (IF 1.9) Pub Date : 2023-12-14 Hiroshi Ohyama, Yosuke Hirotsu, Kenji Amemiya, Rintaro Mikata, Hiroyuki Amano, Sumio Hirose, Toshio Oyama, Yuji Iimuro, Yuichiro Kojima, Hitoshi Mochizuki, Naoya Kato, Masao Omata
Background Obtaining sufficient tumor tissue for genomic profiling is challenging in pancreaticobiliary cancer (PBCA). We determined the utility of molecular barcoding (MB) of liquid biopsies (bile, duodenal fluid, and plasma) for highly sensitive genomic diagnosis and detection of druggable mutations for PBCA. Methods Two in-house panels of 60 genes (non-MB panel) and 21 genes using MB (MB panel)
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Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature Cancer Genet. (IF 1.9) Pub Date : 2023-12-12 Tessa Gonzalez, Qian Nie, Lubna N. Chaudhary, Donald Basel, Honey V. Reddi
Early detection of breast cancer would help alleviate the burden of treatment for early-stage breast cancer and help patient prognosis. There is currently no established gene panel that utilizes the potential of DNA methylation as a molecular signature for the early detection of breast cancer. This systematic review aims to identify the optimal methylation biomarkers for a non-invasive liquid biopsy
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EML4-ALK Variant 3a/b as a mechanism of osimertinib resistance in a patient with EGFR L858R positive NSCLC Cancer Genet. (IF 1.9) Pub Date : 2023-12-10 Teppei Yamaguchi, Katsuhiro Masago, Eiichi Sasaki, Hiroaki Kuroda, Hirokazu Matsushita, Yoshitsugu Horio
Abstract not available
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Clinical whole-genome sequencing and FISH identify two different fusion partners for NUP98 in a patient with acute myeloid leukemia: A case report Cancer Genet. (IF 1.9) Pub Date : 2023-11-29 Bahareh A. Mojarad, Zachary D. Crees, Molly C. Schroeder, Zhifu Xiang, Justin Vader, Jason Sina, Meagan Jacoby, John L. Frater, Eric J. Duncavage, David H. Spencer, Kory Lavine, Julie A. Neidich, Ina Amarillo
Background Only rare cases of acute myeloid leukemia (AML) have been shown to harbor a t(8;11)(p11.2;p15.4). This translocation is believed to involve the fusion of NSD3 or FGFR1 with NUP98; however, apart from targeted mRNA quantitative PCR analysis, no molecular approaches have been utilized to define the chimeric fusions present in these rare cases. Case Presentation Here we present the case of
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Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants Cancer Genet. (IF 1.9) Pub Date : 2023-10-11 Erin Mundt, Brent Mabey, Irene Rainville, Charite Ricker, Nanda Singh, Anna Gardiner, Susan Manley, Thomas Slavin
Background and aims Heterozygous truncating pathogenic variants (PVs) in CHEK2 confer a 1.5 to 3-fold increased risk for breast cancer and may elevate colorectal cancer risks. Less is known regarding missense variants. Here we compared the cancer associations with truncating and missense PVs in CHEK2 across breast and colorectal cancer. Methods This was a retrospective analysis of 705,797 patients
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Pan-cancer genetic analysis of disulfidptosis-related gene set Cancer Genet. (IF 1.9) Pub Date : 2023-10-10 Hengrui Liu, Tao Tang
Background A recent study has identified a novel programmed cell death pathway, termed disulfidptosis, which is based on disulfide proteins. This discovery provides new insight into the mechanisms of cell death and may have implications for therapeutic strategies targeting cell death pathways. This study aimed to evaluate the pan-cancer genomics and clinical association of disulfidptosis and disulfidptosis-related
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Corrigendum to “Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer” [Cancer Genetics Volumes 276–277, August 2023, Pages 48-59] Cancer Genet. (IF 1.9) Pub Date : 2023-09-19 Teng Zhang, Jun Li, Junyong Dai, Fang Yuan, Gangjun Yuan, Han Chen, Dawei Zhu, Xin Mao, Lei Qin, Nan Liu, Mingzhen Yang
Abstract not available
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Hypomethylation of DRD2 promotes breast cancer through the FLNA-ERK pathway Cancer Genet. (IF 1.9) Pub Date : 2023-09-09 Shuoyi Zhang, Ming Zhong, Hongbo Zhu, Qinghua You, Hao Yuan, Yongping Li
We investigated the effect of stem cell marker dopamine receptor D2 (DRD2) on the proliferation of hormone-receptor-negative breast cancer cells. High-throughput DNA methylation sequencing on an 850 K chip was used to pre-screen breast cancer tissues with significant methylation differences. The expression of DRD2 in breast cancer and normal breast tissues, and clinical risk factors, were detected
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Paediatric B lymphoblastic leukaemia with hyperdiploidy and a false-positive KMT2A fluorescence in situ hybridization result Cancer Genet. (IF 1.9) Pub Date : 2023-09-06 Jenna Nunn, Nandini Adayapalam, Sarbjit Riyat, Louise Seymour, Bronwyn Williams, Jacqueline Rehn, Deborah White, Andrew S. Moore, Karen Tsuchiya
The dramatic improvement in the event-free survival of paediatric B-lymphoblastic leukaemia (B-ALL) has led to risk-stratified treatment. Through a combination of clinical features, cytogenetic abnormalities and assessment of treatment response, patients are stratified to receive different intensities of therapy. The presence of high hyperdiploidy (>50 chromosomes) is considered a favourable genetic
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Effects of concurrent TP53 mutations on the efficacy and prognosis of targeted therapy for advanced EGFR mutant lung adenocarcinoma Cancer Genet. (IF 1.9) Pub Date : 2023-08-27 Huiwen Qian, Chunqi Hou, Yi Zhang, Shundong Ji, Chongke Zhong, Juan Li, Qianqian Zhang, Jianan Huang, Chong Li
Background How concurrent TP53 mutations affect targeted therapy of advanced Epidermal Growth Factor Receptor (EGFR) mutant lung adenocarcinoma remains controversial, particularly the deep classification of TP53 mutations. Methods This study retrospectively analyzed the clinical data of advanced EGFR mutant lung adenocarcinoma patients treated with EGFR-tyrosine kinase inhibitors (TKIs) in the First
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Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype Cancer Genet. (IF 1.9) Pub Date : 2023-08-15 You-Wen Qian, Eunice S. Wang, Sheila Jani Sait, Sean T. Glenn
We report a case of a 20-year-old man who presented with splenomegaly, hyperleukocytosis, anemia, and thrombocytopenia. A diagnosis of acute myeloid leukemia (AML) with LRRFIP1::FGFR1 rearrangement with complex karyotype was determined. Chromosome analysis showed a male karyotype: 46,XY,i(1)(q10),t(2;8)(q37;p11.2),der(5)t(1;5) (p22;q13)[17]46,XY[3]. Fluorescence in situ hybridization (FISH) analysis
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Identification of a novel RSRC1-ALK (R6: A20) fusion using next-generation sequencing technique Cancer Genet. (IF 1.9) Pub Date : 2023-08-09 Jingjing Xia, Sheng Chen, Zhujian Zhang, Jipeng Wang
Non-small-cell lung cancer (NSCLC) patients with anaplastic lymphoma kinase (ALK) fusion showed promising responses to ALK tyrosine kinase inhibitors (TKIs). In this study, fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), next generation sequencing (NGS) and Sanger sequencing were performed to identify the presence of ALK fusion, to investigate whether the patient may benefit
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Evaluation of chromosome 1p/19q deletion by Fluorescence in Situ Hybridization (FISH) as prognostic factors in malignant glioma patients on treatment with alkylating chemotherapy Cancer Genet. (IF 1.9) Pub Date : 2023-08-10 Arshad A. Pandith, Wani Zahoor, Usma Manzoor, Syed Nisar, Faisal R. Guru, Niyaz A. Naikoo, Qurat ul Aein, Shahid M. Baba, Abdul R Bhat, Farooq Ganai, Parveen Shah
Background Either deletion or co-deletion of chromosomal arms 1p or 19q is a characteristic and early genetic event in oligodendroglial tumors that is associated with a better prognosis and enhanced response to therapy. Information of 1p/19q status is now regarded as the standard of care when managing oligodendroglial tumors for therapeutic options in anticipation of the increased survival and progression-free
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Corrigendum to ‘Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study’ Cancer Genetics 270–271 (2022) 32–38 Cancer Genet. (IF 1.9) Pub Date : 2023-08-09 A. Maojing Guan, Jianping Xu, Qingming Shi
Abstract not available
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Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies Cancer Genet. (IF 1.9) Pub Date : 2023-08-08 Grant Hogg, Eric A. Severson, Li Cai, Heidi M. Hoffmann, Kimberly A. Holden, Kerry Fitzgerald, Angela Kenyon, Qiandong Zeng, Michael Mooney, Sabrina Gardner, Wenjie Chen, Narasimhan Nagan, Deborah Boles, Scott Parker, Tamara J. Richman, Stanley Letovsky, Henry Dong, Steven M. Anderson, Shakti Ramkissoon, Prasanth Reddy, Taylor J. Jensen
Myeloid neoplasms represent a broad spectrum of hematological disorders for which somatic mutation status in key driver genes is important for diagnosis, prognosis and treatment. Here we summarize the findings of a targeted, next generation sequencing laboratory developed test in 24,639 clinical myeloid samples. Data were analyzed comprehensively and as part of individual cohorts specific to acute
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Prognostic impact of molecular profiles and molecular signatures in clear cell ovarian cancer Cancer Genet. (IF 1.9) Pub Date : 2023-08-03 Tine Henrichsen Schnack, Douglas-V.N.P. Oliveira, Anne Pernille Christiansen, Claus Høgdall, Estrid Høgdall
Objective Ovarian Clear cell carcinomas (OCCC) are characterized by low response to chemotherapy and a poor prognosis in advanced stages. Several studies have demonstrated that OCCC are heterogenous entities. We have earlier identified four molecular profiles based on the mutational status of ARID1A and PIK3CA. In this study we aimed to examine the association between molecular profiles, Tumor Mutational
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Construction of a genomic instability-derived predictive prognostic signature for non-small cell lung cancer patients Cancer Genet. (IF 1.9) Pub Date : 2023-08-02 Wei Li, Huaman Wu, Juan Xu
Background Genomic instability (GI) is an effective prognostic marker of cancer. Thus, in this work, we aimed to explore the impact of GI derived signature on prognosis in non-small cell lung cancer (NSCLC) patients using bioinformatics methods. Methods The data of NSCLC patients were collected from The Cancer Genome Atlas. Totally 1794 immune related genes were downloaded from immport database. The
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Prognostic significance of CCND1 amplification/overexpression in smoking patients with esophageal squamous cell carcinoma Cancer Genet. (IF 1.9) Pub Date : 2023-07-28 Dongxian Jiang, Qi Song, Fuhan Zhang, Chen Xu, Xiaojing Li, Haiying Zeng BM, Jieakesu Su, Jie Huang, Yifan Xu, Shaohua Lu, Yingyong Hou
Esophageal squamous cell carcinoma (ESCC) is the main subtype of esophageal cancer, with 5-year survival rate less than 30%. In order to offer an individual therapeutic approach, it is necessary to identify novel prognostic factors to recognize high-risk patients. Given the high frequency of CCND1 abnormalities and the important biological effects of smoking in ESCC, we explored the potential relationship
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Molecular subtyping and immune score system by a novel pyroptosis-based gene signature precisely predict immune infiltrating, survival and response to immune-checkpoint blockade in breast cancer Cancer Genet. (IF 1.9) Pub Date : 2023-07-21 Xiaomei Zeng, Xun Huang, Lingxi Yin, Hui Yu, Shiyu Wang, Lijuan Li
Breast cancer is one of the most prevalent and lethal types of cancer affecting women globally. Pyroptosis is a recently elucidated form of inflammatory cell death mediated by the gasdermin family and is considered to be associated with the tumor immune microenvironment. However, the impact of pyroptosis on breast cancer patients remains unclear. In this study, we identified 31 Pyroptosis-Related-Genes
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Rare concomitance of ETV6::RUNX1 and BCR::ABL1p210 in a child diagnosed with B-cell precursor acute lymphoblastic leukemia Cancer Genet. (IF 1.9) Pub Date : 2023-07-16
Abstract not available
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Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer Cancer Genet. (IF 1.9) Pub Date : 2023-07-17 Teng Zhang, Jun Li, Junyong Dai, Fang Yuan, Gangjun Yuan, Han Chen, Dawei Zhu, Xin Mao, Lei Qin, Nan Liu, Mingzhen Yang
Purpose Cancer stemness represents the tumor-initiation and self-renewal potentials of cancer stem cells. It is involved in prostate cancer progression and resistance to therapy. Herein, we aimed to unveil the stemness features, establish a novel prognostic model, and identify potential therapeutic targets. Methods 26 stemness-related signatures were obtained from StemChecker. The expression profiles
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Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement Presenting with Polycythemia Vera and T-cell Acute Lymphoblastic Leukemia. Cancer Genet. (IF 1.9) Pub Date : 2023-07-13
Myeloid/lymphoid neoplasm with fibroblast growth factor 1 rearrangements (MLN-FGFR1) represents a rare group of hematologic neoplasms, with approximately 100 cases reported to date. A 69-year-old woman with a history of polycythemia and leukocytosis, with negative molecular testing for JAK2, CALR, and MPL, presented with diffuse adenopathy. A lymph node (LN) biopsy revealed effacement by T-lymphoblasts
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Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia Cancer Genet. (IF 1.9) Pub Date : 2023-07-11
KMT2A (11q23.3) gene rearrangements are found in acute leukemia and are associated with a poor or intermediate prognosis. MLLT10 is the fourth most common gene fusion partner for KMT2A. A reciprocal translocation t(10;11) is insufficient to produce an in-frame KMT2A/MLLT10 fusion, because the genes involved in the rearrangement have opposite transcriptional orientations. In order to bring KMT2A and
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Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma Cancer Genet. (IF 1.9) Pub Date : 2023-06-28 Mei Ling Chong, James Knight, Gang Peng, Weizhen Ji, Hongyan Chai, Yufei Lu, Shengming Wu, Peining Li, Qiping Hu
We performed whole exome sequencing (WES) and microarray analysis to detect somatic variants and copy number alterations (CNAs) for underlying mechanisms in a case series of hepatocellular carcinoma (HCC) with paired DNA samples from tumor and adjacent nontumor tissues. Clinicopathologic findings based on Edmondson-Steiner (E-S) grading, Barcelona-Clinic Liver Cancer (BCLC) stages, recurrence, and
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Unfolded protein response signature unveils novel insights into breast cancer prognosis and tumor microenvironment Cancer Genet. (IF 1.9) Pub Date : 2023-06-14 Nanyang Zhou, Dejia Kong, Qiao Lin, Xiaojing Yang, Dan Zhou, Lihua Lou, Feixiang Huang
Background The critical role of the unfolded protein response (UPR) in tumorigenesis is widely acknowledged, yet the precise molecular mechanisms underlying its contribution to breast cancer (BC) have not been fully elucidated. The present study aimed to comprehensively explore the expression characteristics and prognostic significance of UPR-related genes in breast cancer Methods The transcriptome
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Philadelphia chromosome- positive myelodysplastic syndrome with single lineage dysplasia Cancer Genet. (IF 1.9) Pub Date : 2023-05-27 Ajeet Kumar, Vijai Tilak, Disha Arora, , , Deepak Gautam, Akhtar Ali
Myelodysplastic syndrome (MDS) is a group of acquired clonal disorders characterized by dysplastic and ineffective hematopoiesis in the bone marrow. Various specific karyotypic and molecular abnormalities associated with MDS further guide the prognosis. Although translocation t(9;22)(q34;q11) (Philadelphia positive [Ph+]) and corresponding BCR-ABL fusion transcript are classically defined to differentiate
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Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma Cancer Genet. (IF 1.9) Pub Date : 2023-05-20 Aaron L. Sarver, Lauren J. Mills, Kelly M. Makielski, Nuri A. Temiz, Jinhua Wang, Logan G. Spector, Subbaya Subramanian, Jaime F. Modiano
A hallmark of osteosarcoma in both human and canine tumors is somatic fragmentation and rearrangement of chromosome structure which leads to recurrent increases and decreases in DNA copy number. The PTEN gene has been implicated as an important tumor suppressor in osteosarcoma via forward genetic screens. Here, we analyzed copy number changes, promoter methylation and transcriptomes to better understand
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Comprehensive FISH testing using FFPE tissue microarray of primary lymph node tissue identifies secondary cytogenetic abnormalities in Mantle Cell Lymphoma Cancer Genet. (IF 1.9) Pub Date : 2023-04-17 Fiona Webb, Adrienne Morey, Collete Mahler-Hinder, Ekavi Georgousopoulou, RayMun Koo, Nalini Pati, Dipti Talaulikar
Introduction Mantle Cell Lymphoma (MCL), is characterised by the reciprocal translocation t(11;14) resulting in CCND1-IGH gene fusion and subsequent upregulation of the CCND1 gene. Rearrangements of MYC and losses of CDKN2A and TP53 have been identified as biomarkers informing prognostic and potentially therapeutic information however these are not routinely assessed in MCL investigation. We aimed
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Malignant peripheral nerve sheath tumor on a patient with a maternally inherited novel NF1 gene pathogenic germline variant: Case report Cancer Genet. (IF 1.9) Pub Date : 2023-04-15 Rodrigo Moreno-Salgado, Yanen Zaneli Rios-Lozano, Ana Carolina Tamayo-Palacio, Ana Idalia-Yepez Castillo, María Fernanda Hidalgo-Martínez
Introduction Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome caused by pathogenic variants in NF1, which negatively regulates the RAS pathway. Knowledge of the genotype-phenotype correlation in this disease is an important tool for prognostic evaluation and early detection of malignant peripheral nerve sheath tumors (MPNST), present in approximately 10% of these
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Metabolic–related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma Cancer Genet. (IF 1.9) Pub Date : 2023-04-13 Zhe Jin, Ya-Hui Liu
Objectives Our study aimed to reveal the metabolic-related gene signatures for survival prediction and immune cell subtypes associated with IHCC prognosis. Methods Differentially expressed metabolic genes were identified between survival group and dead group which were divided according to survival at discharge. Recursive feature elimination (RFE) and randomForest (RF) algorithms were applied to optimize
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RNA profile of immuno‐magnetically enriched lung cancer associated exosomes isolated from clinical samples Cancer Genet. (IF 1.9) Pub Date : 2023-03-29 Shefali Singh, Deevanshu Goyal, Karthikeyan Raman, Sachin Kumar, Prabhat Singh Malik, Ravikrishnan Elangovan
Exosomal cargo secreted from cancer cells has been associated with the development and progression of the tumour. Enriching clinically relevant tissue-specific exosomes may assist in the focused analysis of RNA molecules packaged during cancer. Therefore, this study utilized a rapid immunomagnetic enrichment approach for targeted isolation of lung cancer cell-derived exosomes from human plasma, followed
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A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia Cancer Genet. (IF 1.9) Pub Date : 2023-03-21 Rafiye Ciftciler, Ozgur Balasar
Calreticulin (CALR) is a calcium-binding protein chaperone that may be found throughout the extracellular matrix and membranes of cells. It regulates calcium homeostasis and ensures the appropriate folding of newly generated glycoproteins within the endoplasmic reticulum. A somatic mutation in JAK2, CALR, or MPL is responsible for the great majority of essential thrombocythemia (ET) cases. ET has a
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Detection of an atypical BCR::ABL1 fusion in a patient with secondary B-cell acute lymphoblastic leukemia/lymphoma following multiple myeloma treatment Cancer Genet. (IF 1.9) Pub Date : 2023-03-20 Karin Miller, Jonathan Webster, Philip Imus, Candice Ament, Melanie Hardy, Ying S. Zou
Secondary hematologic malignancies, such as B-cell acute lymphoblastic leukemia/lymphoma (B-ALL), have been reported following multiple myeloma. Tyrosine kinase inhibitors have improved clinical outcomes of patients with Philadelphia-positive (Ph+) B-ALL. Therefore, recognition of the Ph chromosome in B-ALL patients is important for both prognosis and therapies. We present a case of a secondary Ph+
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Synergetic effect of Azacitidine and Sorafenib in treatment of a case of myeloid neoplasm with sole chromosomal abnormality t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement Cancer Genet. (IF 1.9) Pub Date : 2023-03-18 Somprakash Dhangar, Chandrakala Shanmukhaiah, Leena Sawant, Jagdeeshwar Ghatanatti, Aditi Shah, Leo Prince Mathan S, Babu Rao Vundinti
The sole t(8;22)(p11.2;q11.2)/BCR- FGFR1 chromosomal abnormality formerly known as aCML is an extremely rare disease entity with a history of rapid progression. Though patients resemble phenotypically chronic myeloid leukemia, the treatment of patients with sole BCR-FGFR1 rearrangement are still challenging for clinicians due to rapid progressive nature and unavailability of uniform treatment guidelines
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Epithelial-mesenchymal transition-related gene prognostic index and phenotyping clusters for hepatocellular carcinoma patients Cancer Genet. (IF 1.9) Pub Date : 2023-03-20 Xiaojing Wang, Wangyuan Zeng, Lu Yang, Tanjie Chang, Jiangzheng Zeng
Epithelial-mesenchymal transition (EMT) contributes to high tumor heterogeneity and the immunosuppressive environment of the HCC tumor microenvironment (TME). Here, we developed EMT-related genes phenotyping clusters and systematically evaluated their impact on HCC prognosis, the TME, and drug efficacy prediction. We identified HCC specific EMT-related genes using weighted gene co-expression network
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A novel germline frameshift mutation in the MLH1 gene in a patient with Lynch syndrome Cancer Genet. (IF 1.9) Pub Date : 2023-03-20 Jianbiao Xu, Jianlin Song, Wenchuan Zhu, Liangyu Zuo, Jinzhi Wu, Li Zhang, Tongmin Wang, Jianhui Guo
Lynch syndrome (LS) is an autosomal dominant inherited disorder, characterized by a predisposition to various cancers, mainly colorectal cancer (CRC). LS is caused by germline mutations in DNA mismatch repair genes i.e. mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6), and post-meiotic segregation increased 2 (PMS2). In this study, we report a novel germline frameshift mutation in
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Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma Cancer Genet. (IF 1.9) Pub Date : 2023-03-15 Hengrui Liu
Cuproptosis is a newly identified programmed cell death pathway mediated by intracellular free copper. Cuproptosis genes were studied in this study for a better insight into the role of cuproptosis in cancers. The analysis identified kidney renal clear cell carcinoma (KIRC) as a cancer type most likely to be affected by cuproptosis. This study analyzed the multi-omic data to explore the cancer-noncancer
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Mitotic recombinatory evolution in acute leukemia Cancer Genet. (IF 1.9) Pub Date : 2023-03-11 Peter Papenhausen, Carla A. Kelly, Zhenxi Zhang, Andrea Penton
A cohort of leukemia cases is presented with ancillary testing that includes microarray studies, karyotyping, FISH, and RNA sequencing to illustrate clonal evolution. Common evolution etiology with each case is apparent homologous mitotic recombination (HMR). The cohort includes: four cases of Pre B-cell acute lymphoblastic leukemia (B-ALL) with a single translocation derivative (19)t(1;19)(q23.3;p13
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High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy Cancer Genet. (IF 1.9) Pub Date : 2023-03-06 Francesca Magnoli, Deborah Marchiori, Sofia Facchi, Vittoria Martin, Leonardo Campiotti, Michele Merli, Fausto Sessa, Maria Grazia Tibiletti, Silvia Uccella
BCL2 rearrangement is reported to be an early pathogenetic event in follicular lymphoma (FL) and it is considered as a reliable marker in the follow up of the disease. We aimed to investigate the frequency of BCL2 rearrangement in FLs from northwestern Italy, to evaluate their clinicopathological features, and to investigate alternative genetic aberrations in BCL2-negative FLs. We collected a series
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Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours Cancer Genet. (IF 1.9) Pub Date : 2023-03-05 Linda D Cooley, Lisa A Lansdon, Kris Laurence, John C Herriges, Lei Zhang, Elena A Repnikova, Julie Joyce, Preeti Thakor, Lisa Warren, Scott C Smith, Byunggil Yoo, Melissa Gener, Kevin F Ginn, Midhat S Farooqi
Though rare, pediatric high-grade gliomas (pHGG) are a leading cause of cancer-related mortality in children. We wanted to determine whether our currently available clinical laboratory methods could better define diagnosis for pHGG that had been archived at our institution for the past 20 years (1998 to 2017). We investigated 33 formalin-fixed paraffin-embedded pHGG using ThermoFisher Oncoscan SNP
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Homologous recombination deficiency prediction using low-pass whole genome sequencing in breast cancer Cancer Genet. (IF 1.9) Pub Date : 2023-02-04 Yang Liu, Yalun Li, Min-Zhe Zhang, Dan Chen, Yang Leng, Juan Wang, Bo-Wei Han, Ji Wang
Homologous recombination repair deficiency (HRD) results in a defect in DNA repair and is a frequent driver of tumorigenesis. Poly(ADP-ribose) polymerase inhibitors (PARPi) or platinum-based therapies have increased theraputic effectiveness when treating HRD positive cancers. For breast cancer and ovairan cancer HRD companion diagnostic tests are commonly used. However, the currently used HRD tests
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Unexpected appearance of KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3) Cancer Genet. (IF 1.9) Pub Date : 2023-02-04 Katsuya Yamamoto, Hisayuki Matsumoto, Sakuya Matsumoto, Rina Sakai, Akihito Kitao, Marika Watanabe, Hideaki Goto, Takeshi Sugimoto, Yoshihiko Yano, Kimikazu Yakushijin, Hironobu Minami
As an uncommon but nonrandom translocation in acute myeloid leukemia (AML) t(5;11)(q31;q23) results in fusion between KMT2A at 11q23 and ARHGAP26 at 5q31. The 5q31 region has another KMT2A partner, AFF4, which was identified in acute lymphoblastic leukemia harboring ins(5;11)(q31;q13q23). We report here a 65-year-old woman with AML M5b. G-banding and spectral karyotyping demonstrated 46,XX,t(5;11)(q31;q23
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Novel high–risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP53 Cancer Genet. (IF 1.9) Pub Date : 2023-01-17 Cynthia A. Schandl, Sandra Mazzoni, Iya Znoyko, Georges J. Nahhas, Dongjun Chung, Yanna Ding, Brian Hess, Daynna J. Wolff
ETS-related gene (ERG) amplification, observed in 4–6% of acute myeloid leukemia (AML), is associated with unfavorable prognosis. To determine coincident effects of additional genomic abnormalities in AML with ERG amplification (ERGamp), we examined 11 ERGamp cases of 205 newly diagnosed AML using chromosomal microarray analysis and next generation sequencing. ERGamp cases demonstrated a distinct pattern
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Over‐expression of USP15/MMP3 predict poor prognosis and promote growth, migration in non-small cell lung cancer cells Cancer Genet. (IF 1.9) Pub Date : 2023-01-07 Weiwei Chen, Daguang Ni, Hailin Zhang, Xia Li, Youqin Jiang, Jixiang Wu, Yan Gu, Mingcheng Gao, Woda Shi, Jianxiang Song, Wenyu Shi
Aberrant ubiquitin modifications caused by an imbalance in the activities of ubiquitinases and de-ubiquitinases are emerging as important mechanisms underlying non-small cell lung cancer (NSCLC) progression. The deubiquitinating enzyme ubiquitin-specific peptidase 15 (USP15) has been identified as an important factor in oncogenesis and a potential therapeutic target. However, the expression profile
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A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions Cancer Genet. (IF 1.9) Pub Date : 2023-01-07 Doron Tolomeo, Antonio Agostini, Antonio Giovanni Solimando, Crocifissa Lo Cunsolo, Lorella Cimarosto, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Maria Hernández-Sánchez, Jesús María Hernández-Rivas, Clelia Tiziana Storlazzi
13q14 deletion is the most recurrent chromosomal aberration reported in B-CLL, having a favorable prognostic significance when occurring as the sole cytogenetic alteration. However, its clinical outcome is also related to the deletion size and number of cells with the del(13)(q14) deletion. In 10% of cases, 13q14 deletion arises following a translocation event with multiple partner chromosomes, whose
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Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children Cancer Genet. (IF 1.9) Pub Date : 2023-01-07 Ann-Cathrine Berking, Tim Flaadt, Yvonne Lisa Behrens, Ayami Yoshimi, Alfred Leipold, Ursula Holzer, Peter Lang, Leticia Quintanilla-Martinez, Brigitte Schlegelberger, Andreas Reiter, Charlotte Niemeyer, Brigitte Strahm, Gudrun Göhring
Myeloid/lymphoid neoplasms with eosinophilia (MLN-eos) are rare haematological neoplasms primarily affecting adults. The heterogeneous clinical picture and the rarity of the disease, especially in children, may delay an early diagnosis. MLN-eos are characterized by constitutive tyrosine kinase (TK) activity due to gene fusions. It is thus of importance to obtain a prompt genetic diagnosis to start
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Clinical impact of 5ʹMYC or 3ʹMYC gain/loss detected by FISH in patients with aggressive B-cell lymphomas Cancer Genet. (IF 1.9) Pub Date : 2022-12-18 Guilin Tang, Shaoying Li, Gokce A. Toruner, Preetesh Jain, Zhenya Tang, Shimin Hu, Jie Xu, Joanne Cheng, Melissa Robinson, Francisco Vega, L. Jeffrey Medeiros
FISH analysis using MYC break-apart probes is a widely used technique to assess for MYC rearrangement (MYC-R). Occasionally, FISH results in atypical signal patterns, such as gain or loss of 5ʹMYC or 3ʹMYC. The clinical impact and/or relationship of these atypical signal patterns to MYC-R are unknown. In this study, we assessed 35 patients who had aggressive B-cell lymphomas and exhibited atypical
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Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues [Cancer Genetics 268-269 (2022) 137-143] Cancer Genet. (IF 1.9) Pub Date : 2022-12-06 Chuang-Ming Zheng, Xuan-Mei Piao, Young Joon Byun, Sun Jin Song, Seon-Kyu Kim, Sung-Kwon Moon, Yung-Hyun Choi, Ho Won Kang, Won Tae Kim, Yong-June Kim, Sang-Cheol Lee, Wun-Jae Kim, Seok Joong Yun
Abstract not available