Article
Oncology
Gabor Bedics, Balint Egyed, Lili Kotmayer, Anne Benard-Slagter, Karel de Groot, Anna Beko, Lajos Laszlo Hegyi, Bence Batai, Szilvia Krizsan, Gergely Krivan, Daniel J. Erdelyi, Judit Mueller, Iren Haltrich, Bela Kajtar, Laszlo Pajor, Agnes Vojcek, Gabor Ottoffy, Aniko Ujfalusi, Istvan Szegedi, Lilla Gyoergyi Tiszlavicz, Katalin Bartyik, Krisztina Csanadi, Gyoergy Peter, Reka Simon, Peter Hauser, Agnes Kelemen, Endre Sebestyen, Zsuzsanna Jakab, Andras Matolcsy, Csongor Kiss, Gabor Kovacs, Suvi Savola, Csaba Bodor, Donat Alpar
Summary: A study on pediatric acute lymphoblastic leukemia (ALL) revealed that 93.8% of the patients had disease-relevant copy number aberrations (CNAs). A novel prognostic classifier based on the combination of cytogenetic profiles and IKZF1 status was developed, which stratified patients into different risk groups with significantly different clinical outcomes.
BRITISH JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Philipp Kaufmann, R. Axel W. Wiberg, Konstantinos Papachristos, Douglas G. Scofield, Christian Tellgren-Roth, Elina Immonen
Summary: The Y chromosome in seed beetles has been found to affect male body size and sexual size dimorphism. Researchers discovered an additional copy of the gene target of rapamycin (TOR) on the Y chromosome, which may provide a male-specific opportunity to alter body size. Despite suppressed recombination, the Y chromosome has adaptive potential as a male-limited supergene.
MOLECULAR BIOLOGY AND EVOLUTION
(2023)
Article
Immunology
Manuela Moraru, Adriana Perez-Portilla, Karima Al-Akioui Sanz, Alfonso Blazquez-Moreno, Antonio Arnaiz-Villena, Hugh T. Reyburn, Carlos Vilches
Summary: Fc gamma receptors (FcγR) are cell-surface glycoproteins that play a role in immune responses. The CNR5 deletion on the FCGR locus can lead to loss and recombination of FCGR genes, potentially affecting immune function. The distribution of FCGR polymorphism shows significant variation in the highlands of Ecuador, with CNR5 deletion being relatively common.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Multidisciplinary Sciences
Eleanor L. Woodward, Minjun Yang, Larissa H. Moura-Castro, Hilda van den Bos, Rebeqa Gunnarsson, Linda Olsson-Arvidsson, Diana C. J. Spierings, Anders Castor, Nicolas Duployez, Marketa Zaliova, Jan Zuna, Bertil Johansson, Floris Foijer, Kajsa Paulsson
Summary: This study reveals that the aneuploidies in high hyperdiploid acute lymphoblastic leukemia (HeH ALL) may originate early and follow a punctuated evolution process, using single-cell whole genome sequencing and in silico modeling.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Zuzanna Urbanska, Monika Lejman, Joanna Taha, Joanna Madzio, Kinga Ostrowska, Karolina Miarka-Walczyk, Kamila Wypyszczak, Borys Styka, Justyna Jakubowska, Lukasz Sedek, Tomasz Szczepanski, Marcin Stanczak, Wojciech Fendler, Wojciech Mlynarski, Agata Pastorczak
Summary: We analyzed the pattern of whole-genome copy number alterations (CNAs) and their association with blast clearance kinetics during induction treatment in 195 pediatric patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Three clusters of leukemic samples with distinct blast clearance kinetics were identified, which correlated with clinical features, microdeletion profile, gene fusions, and patient survival. The pattern of CNAs influenced leukemic cell clearance kinetics, and aberrations affecting DNA repair genes may contribute to chemoresistance in BCP-ALL.
Article
Oncology
Catherine Metayer, Partow Imani, Sandrine Dudoit, Libby Morimoto, Xiaomei Ma, Joseph L. L. Wiemels, Lauren M. M. Petrick
Summary: Leukemia is the most common cancer in children in industrialized countries, and prenatal folic acid intake is known to reduce the risk of childhood leukemia. However, our study found that the nutrients measured in the folate metabolism pathway at birth were unable to predict subsequent leukemia in children. Further research is needed to understand the impact of these nutrients at the time of conception or during the first trimester of pregnancy.
Article
Cell Biology
Shih-Feng Liu, Hui-Chuan Chang, Yu-Ping Chang, Ho-Chang Kuo, Yuh-Chyn Tsai
Summary: IL13 polymorphism is associated with chronic obstructive pulmonary disease (COPD), which is characterized by fewer copies of mitochondrial DNA in COPD patients. The IL13 polymorphism affects mitochondrial mutation and recombination.
Article
Biochemistry & Molecular Biology
Patricia Alejandra Garrido Ruiz, Maria Gonzalez-Tablas, Alejandro Pasco Pena, Maria Victoria Zelaya Huerta, Javier Ortiz, Alvaro Otero, Luis Antonio Corchete, Maria Dolores Ludena, Maria Cristina Caballero Martinez, Alicia Cordoba Iturriagagoitia, Inmaculada Catalina Fernandez, Joaquin Gonzalez-Carrero Fojon, Aurelio Hernandez Lain, Alberto Orfao, Maria Dolores Tabernero
Summary: This study analyzed a series of 305 RM samples from the literature and 33 samples from 23 patients, finding that monosomy 22 was the most common chromosomal alteration, followed by losses of chromosomes 14, 1, 6, and 19, and gains of chromosomes 13q14.2, 10p13, and 21q21.2. RM could be classified into two genetic subgroups based on their chromosomal alterations, with the latter subgroup having poorer clinical outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Plant Sciences
Xiaoxia Ding, Jieting Chen, Chunyan Dai, Peiqi Shi, Hengyu Pan, Yanqi Lin, Yikang Chen, Lu Gong, Linming Chen, Wenguang Wu, Xiaohui Qiu, Jiang Xu, Zhihai Huang, Baosheng Liao
Summary: This study characterized the ribosomal DNA (rDNA) of Artemisia annua and identified rich polymorphisms in rDNA copy number and sequence in A. annua populations. The study also found significant differences in the haplotype composition of the internal transcribed spacer 2 (ITS2) region among A. annua strains. These findings suggest that ITS2 haplotype analysis is an ideal tool for A. annua strain identification and population genetic homogeneity assessment.
Review
Pharmacology & Pharmacy
Qing-Yan Yang, Ya-Hui Hu, Hong-Li Guo, Ying Xia, Yong Zhang, Wei-Rong Fang, Yun-Man Li, Jing Xu, Feng Chen, Yong-Ren Wang, Teng-Fei Wang
Summary: Vincristine (VCR) is a commonly used chemotherapy medication for childhood acute lymphoblastic leukemia, but its neurotoxicity limits its clinical application. Genetic variants may affect the incidence and severity of VCR-induced peripheral neuropathy (VIPN). Individualized treatment strategies may help diagnose and manage VIPN earlier, improving patient quality of life.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Oncology
Dianjie Li, Hong Gao, Wanting Zheng, Chunzhu Jin, Yuxin Huang, Shilei Pan
Summary: Fetal cervical teratoma is a rare congenital tumor that affects the survival of the patients. This article reports a case of this disease, in which histology and genetic sequencing techniques were used to analyze the tumor and identified a copy number variation related to chromosome 14q24.1-q24.3. Ultrasound and MRI can be used as reliable diagnostic tools, and surgical intervention with placental support can improve the chances of newborn survival.
FRONTIERS IN ONCOLOGY
(2022)
Article
Genetics & Heredity
Ruixue Zhang, Lu Cao, Weiwei Chen, Huiyao Ge, Xia Hu, Zhuo Li, Yirui Wang, Wencheng Fan, Liang Yong, Yafen Yu, Yiwen Mao, Qi Zhen, Hong Liu, Furen Zhang, Liangdan Sun
Summary: This study assessed the association between HLA CNV and leprosy susceptibility in a Northern Han Chinese population for the first time, identifying four independent variants related to leprosy risk. Fine mapping of the MHC region in this population provided evidence for the contribution of HLA to leprosy susceptibility.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
M. Reza Abbasi, Karin Nebral, Sabrina Haslinger, Andrea Inthal, Petra Zeitlhofer, Margit Konig, Dagmar Schinnerl, Stefan Kohrer, Sabine Strehl, Renate Panzer-Grumayer, Georg Mann, Andishe Attarbaschi, Oskar A. Haas
Summary: This study conducted array analysis on 578 children with acute lymphoblastic leukemia to investigate genetic subgroup-specific chromosome 21 copy number alterations. It revealed some unusual discrepancies between copy number and allele distribution patterns, which were eventually resolved through polymorphic short tandem repeat analyses. The analysis highlighted the importance of chromosome 21 abnormalities in childhood acute lymphoblastic leukemia, particularly in cases of hyperdiploid leukemias with tetra- and pentasomies and in constitutionally trisomic patients.
Article
Neurosciences
Ali Bani-Fatemi, Christopher Adanty, Nasia Dai, Ariel Graff, Philip Gerretsen, Vincenzo De Luca
Summary: The study did not find a significant association between deletions on chromosome 22 and suicide attempt in patients with schizophrenia. However, CNV studies may provide important insights for further investigation and treatment of neuropsychiatric diseases.
NEUROPSYCHOBIOLOGY
(2021)
Article
Oncology
Xiaopeng Guo, Lingui Gu, Yilin Li, Zhiyao Zheng, Wenlin Chen, Yaning Wang, Yuekun Wang, Hao Xing, Yixin Shi, Delin Liu, Tianrui Yang, Yu Xia, Junlin Li, Jiaming Wu, Kun Zhang, Tingyu Liang, Hai Wang, Qianshu Liu, Shanmu Jin, Tian Qu, Siying Guo, Huanzhang Li, Yu Wang, Wenbin Ma
Summary: This study aimed to characterize the clinical, radiological, molecular, and survival features of glioblastoma (GBM) under the current classification scheme and explore survival determinants. The results showed that patients with molecular subtype GBMs were younger, less likely to develop preoperative motor dysfunction, and more likely to develop epilepsy compared to histological subtype GBMs. Molecular GBMs exhibited lower radiographic incidences of contrast enhancement and intratumoral necrosis. The median overall survival of GBM was 12.6 months, with molecular GBMs having a slightly higher median overall survival than histological GBMs.
FRONTIERS IN ONCOLOGY
(2023)