Integrated Genetic Profiling of Archival Pediatric High-Grade Glial Tumors and Reassessment with 2021 WHO Classification of Paediatric CNS Tumours
Central nervous system (CNS) tumors are the most common type of pediatric solid tumors and the leading cause of cancer-related deaths in childhood [24,31,32]. Of all childhood CNS tumors, high-grade gliomas account for most of the tumor-related deaths. Pediatric high-grade gliomas (pHGG) are rare, with only two to three cases per 100,000 in the United States annually, and the overall survival rate for children under the age of 19 years who have pHGG remains dismal even with newer diagnostics and therapeutics [24]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 3, 2023 Category: Genetics & Stem Cells Authors: 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 Tags: Original Article Source Type: research
Unexpected appearance of KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3)
We report here a 65-year-old woman with AML M5b. G-banding and spectral karyotyping demonstrated 46,XX,t(5;11)(q31;q23.3). Fluorescence in situ hybridization revealed not only separated 5 ’ and 3’ KMT2A signals but a faint 5’ KMT2A signal. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - February 3, 2023 Category: Genetics & Stem Cells Authors: Katsuya Yamamoto, Hisayuki Matsumoto, Sakuya Matsumoto, Rina Sakai, Akihito Kitao, Marika Watanabe, Hideaki Goto, Takeshi Sugimoto, Yoshihiko Yano, Kimikazu Yakushijin, Hironobu Minami Tags: Case Report Source Type: research
Homologous recombination deficiency prediction using low-pass whole genome sequencing in breast cancer
The homologous recombination repair (HRR) pathway is responsible for repairing DNA double-stranded breaks in mammalian cells. Deficiency of the HRR pathway is common in many cancers and recognized as a potent tumorigenic driver in several cancers, including ovarian, breast, prostate, and pancreatic cancer [1 –4]. Homologous recombination deficiency (HRD) has been demonstrated to be sensitive to both platinum-based chemotherapy and poly(ADP-ribose) polymerase inhibitors (PARPi), especially in ovarian and breast cancer [1–3]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - February 3, 2023 Category: Genetics & Stem Cells Authors: Yang Liu, Yalun Li, Min-Zhe Zhang, Dan Chen, Yang Leng, Juan Wang, Bo-Wei Han, Ji Wang Tags: Original Article Source Type: research
Novel high –risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP53
Acute myeloid leukemia (AML) is a heterogeneous disease with the most recent WHO classification [1] describing 11 subtypes with recurrent genetic abnormalities and>20 subtypes defined morphologically. Each genetically defined AML has specific findings that allow for appropriate risk-stratification and, for some, treatment selection. Apart from acute promyelocytic leukemia with PML:RARA fusion, AML induction therapy is not typically determined by genetics; however, the decision to pursue post-induction stem cell transplant has relied on clinical and genetic factors. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - January 17, 2023 Category: Genetics & Stem Cells Authors: Cynthia A. Schandl, Sandra Mazzoni, Iya Znoyko, Georges J. Nahhas, Dongjun Chung, Yanna Ding, Brian Hess, Daynna J. Wolff Source Type: research
Over ‐expression of USP15/MMP3 predict poor prognosis and promote growth, migration in non-small cell lung cancer cells
Lung cancer has been one of the main causes of cancer-related mortality worldwide over the past few decades [1]. In total, ∼80% of the patients with lung cancer are histopathologically diagnosed with the non-small cell lung cancer (NSCLC) subtype [2,3]. Although 30-40% of the patients exhibit good responses to cytotoxic therapy initially, most, if not all, of the patients will eventually relapse during or after treatm ent [4–6]. Dysregulation of oncogene and tumor suppressor gene expression contributes to the progression of NSCLC [7–10]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - January 6, 2023 Category: Genetics & Stem Cells Authors: Weiwei Chen, Daguang Ni, Hailin Zhang, Xia Li, Youqin Jiang, Jixiang Wu, Yan Gu, Mingcheng Gao, Woda Shi, Jianxiang Song, Wenyu Shi Tags: Original Article Source Type: research
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children
Myeloid/lymphoid neoplasms with eosinophilia (MLN-eo) are associated with more than 70 fusion genes [1,2]. These fusions are often cryptic and thus not detectable by classical banding analysis or even FISH. They arise from cytogenetic rearrangements, inversions or deletions leading to constitutive tyrosine kinase activity. The incidence of MLN-eo with rearrangements of PDGFRA, PDGFRB, FGFR1 and PCM1::JAK2 is unknown. These diseases are considered to be very rare entities with an estimated incidence of (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - January 6, 2023 Category: Genetics & Stem Cells Authors: 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 G öhring Tags: Short Communication Source Type: research
Over-expression of USP15/MMP3 predict poor prognosis and promote growth, migration in non-small cell lung cancer cells
Lung cancer has been one of the main causes of cancer-related mortality worldwide over the past few decades [1]. In total, ∼80% of the patients with lung cancer are histopathologically diagnosed with the non-small cell lung cancer (NSCLC) subtype [2,3]. Although 30-40% of the patients exhibit good responses to cytotoxic therapy initially, most, if not all, of the patients will eventually relapse during or after treatm ent [4–6]. Dysregulation of oncogene and tumor suppressor gene expression contributes to the progression of NSCLC [7–10]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - January 6, 2023 Category: Genetics & Stem Cells Authors: Weiwei Chen, Daguang Ni, Hailin Zhang, Xia Li, Youqin Jiang, Jixiang Wu, Yan Gu, Mingcheng Gao, Woda Shi, Jianxiang Song, Wenyu Shi Tags: Original Article Source Type: research
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions
13q14 deletion is the most recurrent chromosomal aberration in B-cell Chronic Lymphocytic Leukemia (B-CLL) (50% of the patients) [1], considered a good prognostic factor as a sole cytogenetic aberration [2], even though the clinical course of such patients depends on the deletion size and the number of cells with the del(13)(q14) deletion [3 –6]. Two deletions (Type 1 and 2) are described according to their size, both encompassing the DLEU2/miR15a/miR16-1 genes, with the Type 2 deletions including the RB1 gene [7]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - January 6, 2023 Category: Genetics & Stem Cells Authors: Doron Tolomeo, Antonio Agostini, Antonio Giovanni Solimando, Crocifissa Lo Cunsolo, Lorella Cimarosto, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Maria Hern ández-Sánchez, Jesús María Hernández-Rivas, Clelia Tiziana Storlazzi Source Type: research
Rare and potentially fatal - Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children
Myeloid/lymphoid neoplasms with eosinophilia (MLN-eo) are associated with more than 70 fusion genes [1, 2]. These fusions are often cryptic and thus not detectable by classical banding analysis or even FISH. They arise from cytogenetic rearrangements, inversions or deletions leading to constitutive tyrosine kinase activity. The incidence of MLN-eo with rearrangements of PDGFRA, PDGFRB, FGFR1 and PCM1::JAK2 is unknown. These diseases are considered to be very rare entities with an estimated incidence of (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - January 6, 2023 Category: Genetics & Stem Cells Authors: 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 G öhring Tags: Short Communication Source Type: research
Editorial Board
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 28, 2022 Category: Genetics & Stem Cells Source Type: research
Clinical Impact of 5 ʹMYC or 3ʹMYC Gain/loss Detected by FISH in Patients with Aggressive B-cell Lymphomas
Diffuse large B-cell lymphoma (DLBCL) is the most common type of lymphoma [1]. The standard therapy for patients with DLBCL is R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) chemotherapy and 60-70% of patients are cured using this regimen [1, 2]. For patients who are resistant to frontline chemotherapy or relapse (especially within the first 2 years), alternative chemotherapy regimens, stem cell transplantation (SCT) or other treatment options such as chimeric antigen receptor (CAR) T-cell therapy may improve patient outcome. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 18, 2022 Category: Genetics & Stem Cells Authors: Guilin Tang, Shaoying Li, Gokce A. Toruner, Preetesh Jain, Zhenya Tang, Shimin Hu, Jie Xu, Joanne Cheng, Melissa Robinson, Francisco Vega, L. Jeffrey Medeiros Source Type: research
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]
The authors regret (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 6, 2022 Category: Genetics & Stem Cells Authors: 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 Tags: Corrigendum Source Type: research
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase –positive non-small cell lung cancer in Chinese patients: A retrospective study
Anaplastic lymphoma kinase (ALK) rearrangement is a unique molecular subtype of non-small cell lung cancer (NSCLC) that was first discovered in 2007 [1]. Most patients with this rearrangement that are diagnosed with adenocarcinoma are, on average, 10 years younger than patients with mutated EGFR and have never smoked or had a light smoking history [2]. ALK tyrosine kinase inhibitors (TKIs) are associated with a substantial improvement in patient survival and have been used as the first-line treatment [3]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 29, 2022 Category: Genetics & Stem Cells Authors: Maojing Guan, Jianping Xu, Qingming Shi Tags: Original Article Source Type: research
MUC16 mutation is associated with tumor grade, clinical features, and prognosis in glioma patients
Gliomas are tumors derived from glial cells and glial precursor cells and one of the most frequent and malignant tumors among the primary adult brain tumors [1]. Low-grade gliomas (LGG) englobe slow-growing tumors that were classified by WHO (World Health Organization) in 2007 as grade 1 or 2 (diffuse gliomas) [2] or 3 (anaplastic astrocytomas) [3]. Grade 1 applied to tumors with a low proliferative rate that can potentially be cured following surgical resection. Grade 2 neoplasms were generally infiltrative despite having a low-level proliferative rate. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 19, 2022 Category: Genetics & Stem Cells Authors: Val éria Pereira Ferrer Source Type: research
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line.
Glioblastoma multiforme (GBM) is a type of cancer that affects the glial cells in the brain or spinal cord at a very low rate. This type of malignity is aggressive and lethal with a median overall survival (OS) of approximately 10 to 20 months [1–3]. The aggressiveness of GBM is given possibly by high epigenetic and genetic variability observed in tumor cells, which can trigger a high metastatic potential in other parts of the brain, complicating the efficacy of therapies such as surgery, radiotherapy, chemotherapy, among othe r [1, 4–6]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 10, 2022 Category: Genetics & Stem Cells Authors: Ángela Y. García Fonseca, Yeimy González-Giraldo, Jannet Gonzalez Santos, Andrés F. Aristizábal-Pachón Tags: Original Article Source Type: research
