keyword
https://read.qxmd.com/read/38460675/profiling-of-copy-number-alterations-using-low-coverage-whole-genome-sequencing-informs-differential-diagnosis-and-prognosis-in-primary-cutaneous-follicle-center-lymphoma
#1
JOURNAL ARTICLE
Bence Bátai, Laura Kiss, Luca Varga, Ákos Nagy, Jacob Househam, Ann-Marie Baker, Tamás László, Anna Udvari, Róbert Horváth, Tibor Nagy, Judit Csomor, József Szakonyi, Tamás Schneider, Trevor A Graham, Donát Alpár, Jude Fitzgibbon, Ágota Szepesi, Csaba Bödör
Primary cutaneous follicle center lymphoma (PCFCL) has an excellent prognosis using local treatment, while nodal follicular lymphoma (nFL) occasionally presenting with cutaneous spread, often requires systemic therapy. Distinction of the two diseases based on histopathology alone might be challenging. Copy number alterations (CNAs) have scarcely been explored on a genome-wide scale in PCFCL, yet they might serve as potential biomarkers during differential diagnosis and risk stratification. Low-coverage whole genome sequencing (lcWGS) is a robust, high-throughput method for genome-wide copy number profiling...
March 7, 2024: Modern Pathology
https://read.qxmd.com/read/38394846/molecular-mechanisms-underlying-the-regulation-of-tumour-suppressor-genes-in-lung-cancer
#2
REVIEW
Jia Yee Lee, Richie R Bhandare, Sai H S Boddu, Afzal B Shaik, Lakshmana Prabu Saktivel, Gaurav Gupta, Poonam Negi, Muna Barakat, Sachin Kumar Singh, Kamal Dua, Dinesh Kumar Chellappan
Tumour suppressor genes play a cardinal role in the development of a large array of human cancers, including lung cancer, which is one of the most frequently diagnosed cancers worldwide. Therefore, extensive studies have been committed to deciphering the underlying mechanisms of alterations of tumour suppressor genes in governing tumourigenesis, as well as resistance to cancer therapies. In spite of the encouraging clinical outcomes demonstrated by lung cancer patients on initial treatment, the subsequent unresponsiveness to first-line treatments manifested by virtually all the patients is inherently a contentious issue...
February 22, 2024: Biomedicine & Pharmacotherapy
https://read.qxmd.com/read/38363891/williams-beuren-syndrome-in-pediatric-t-cell-acute-lymphoblastic-leukemia-a-rare-case-report-and-review-of-literature
#3
REVIEW
Rong Yang, Yuan Ai, Ting Bai, Xiao-Xi Lu, Guoqian He
BACKGROUND: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by hemizygous microdeletion of contiguous genes on chromosome 7q11.23. Although the phenotype features extensive heterogeneity in severity and performance, WBS is not considered to be a predisposing factor for cancer development. Currently, hematologic cancers, mainly Burkitt lymphoma, are rarely reported in patients with WBS. Here in, we report a unique case of T-cell acute lymphoblastic leukemia in a male child with WBS...
February 16, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38330461/methylthioadenosine-phosphorylase-genomic-loss-in-advanced-gastrointestinal-cancers
#4
JOURNAL ARTICLE
Natalie Y L Ngoi, Tin-Yun Tang, Catia F Gaspar, Dean C Pavlick, Gregory M Buchold, Emma L Scholefield, Vamsi Parimi, Richard S P Huang, Tyler Janovitz, Natalie Danziger, Mia A Levy, Shubham Pant, Anaemy Danner De Armas, David Kumpula, Jeffrey S Ross, Milind Javle, Jordi Rodon Ahnert
BACKGROUND: One of the most common sporadic homozygous deletions in cancers is 9p21 loss, which includes the genes methylthioadenosine phosphorylase (MTAP), CDKN2A, and CDKN2B, and has been correlated with worsened outcomes and immunotherapy resistance. MTAP-loss is a developing drug target through synthetic lethality with MAT2A and PMRT5 inhibitors. The purpose of this study is to investigate the prevalence and genomic landscape of MTAP-loss in advanced gastrointestinal (GI) tumors and investigate its role as a prognostic biomarker...
February 8, 2024: Oncologist
https://read.qxmd.com/read/38275585/genetic-variants-at-the-9p21-3-locus-are-associated-with-risk-for-non-compressible-artery-disease-results-from-the-artper-study
#5
JOURNAL ARTICLE
Marc Via, Guillem Pera, Rosa Forés, Anna Costa-Garrido, Antonio Heras, José Miguel Baena-Díez, Edurne Pedrosa, Inmaculada C Clemente, Noemí Lamonja-Vicente, Maria Mataró, Pere Torán-Montserrat, M Teresa Alzamora
Peripheral artery disease (PAD) and non-compressible artery disease (NCAD) constitute predictors of subclinical atherosclerosis easily assessed through the ankle brachial index (ABI). Although both diseases show substantial genetic influences, few genetic association studies have focused on the ABI and PAD, and none have focused on NCAD. To overcome these limitations, we assessed the role of several candidate genes on the ABI, both in its continuous distribution and in the clinical manifestations associated to its extreme values: PAD and NCAD...
December 19, 2023: Genes
https://read.qxmd.com/read/38149798/severity-of-coronary-artery-disease-is-associated-with-diminished-circanril-expression-a-possible-blood-based-transcriptional-biomarker-in-east-africa
#6
JOURNAL ARTICLE
Gokce Akan, Evarist Nyawawa, Bashir Nyangasa, Mehmet Kerem Turkcan, Erasto Mbugi, Mohammed Janabi, Fatmahan Atalar
Antisense Noncoding RNA in the INK4 Locus (ANRIL) is the prime candidate gene at Chr9p21, the well-defined genetic risk locus associated with coronary artery disease (CAD). ANRIL and its transcript variants were investigated for the susceptibility to CAD in adipose tissues (AT) and peripheral blood mononuclear cells (PBMCs) of the study group and the impact of 9p21.3 locus mutations was further analysed. Expressions of ANRIL, circANRIL (hsa_circ_0008574), NR003529, EU741058 and DQ485454 were detected in epicardial AT (EAT) mediastinal AT (MAT), subcutaneous AT (SAT) and PBMCs of CAD patients undergoing coronary artery bypass grafting and non-CAD patients undergoing heart valve surgery...
December 27, 2023: Journal of Cellular and Molecular Medicine
https://read.qxmd.com/read/38066541/technical-comparison-of-abbott-s-urovysion-%C3%A2-and-biocare-s-cytofish-urine-fluorescence-in-situ-hybridization-fish-assays
#7
JOURNAL ARTICLE
Tammy Anderson, Sharon Hartman, William Dunn, Harvey Bellin, Thomas W Ehlers, Sarah Groen, Jason A Ramos
BACKGROUND: This study aims to compare the technical performance of Abbott's UroVysion and Biocare's CytoFISH urine cytology probe panel and position the CytoFISH probe panel as an alternative to UroVysion. The CytoFISH probe panel was developed based on clinically sensitive chromosomes found to be amplified in bladder cancers, as well as a locus-specific probe also seen to be amplified in bladder tumors. After extensive testing comparing CytoFISH to UroVysion, we present here our findings for the two assays...
December 8, 2023: Cancer Cell International
https://read.qxmd.com/read/38062574/bidirectional-relationship-between-type-2-diabetes-mellitus-and-coronary-artery-disease-prospective-cohort-study-and-genetic-analyses
#8
JOURNAL ARTICLE
Wenqiang Zhang, Li Zhang, Chenghan Xiao, Xueyao Wu, Huijie Cui, Chao Yang, Peijing Yan, Mingshuang Tang, Yutong Wang, Lin Chen, Yunjie Liu, Yanqiu Zou, Ling Zhang, Chunxia Yang, Yuqin Yao, Jiayuan Li, Zhenmi Liu, Xia Jiang, Ben Zhang
BACKGROUND: While type 2 diabetes mellitus (T2DM) is considered a putative causal risk factor for coronary artery disease (CAD), the intrinsic link underlying T2DM and CAD is not fully understood. We aimed to highlight the importance of integrated care targeting both diseases by investigating the phenotypic and genetic relationships between T2DM and CAD. METHODS: We evaluated phenotypic associations using data from the United Kingdom Biobank (N = 472,050 ). We investigated genetic relationships by leveraging genomic data conducted in European ancestry for T2DM, with and without adjustment for body mass index (BMI) (T2DM: Ncase/Ncontrol = 74,124 /824,006; T2DM adjusted for BMI [T2DMadjBMI]: Ncase/Ncontrol = 50,409 /523,897 ) and for CAD (Ncase/Ncontrol = 181,522 /984,168 )...
December 8, 2023: Chinese Medical Journal
https://read.qxmd.com/read/38028681/cdkn2b-as-rs2891168-sod2-rs4880-and-pon1-rs662-polymorphisms-and-susceptibility-to-coronary-artery-disease-and-type-2-diabetes-mellitus-in-iranian-patients-a-case-control-study
#9
JOURNAL ARTICLE
Abolfazl Yari, Zahra M Karam, Seyed M E Meybodi, Marzieh L Sargazi, Kolsoum Saeidi
BACKGROUND AND AIMS: Coronary artery disease (CAD) is a devastating illness and primary cause of death worldwide that arises from a combination of genetic and environmental factors. Several large-scale studies found that 9p21.3, superoxide dismutase 2 (SOD2), and paraoxonase 1 (PON1) polymorphisms increase type 2 diabetes mellitus (T2DM) and/or coronary artery disease (CAD) risk. Our research aimed to investigate whether the SNPs of the 9p21.3 locus (rs28911698), SOD2 (rs4880), and PON1 (rs662) genes were associated with the risk of T2DM and/or CAD in the Iranian population...
November 2023: Health Science Reports
https://read.qxmd.com/read/38024139/loss-of-chromosome-9p21-is-associated-with-a-poor-prognosis-in-adenosquamous-carcinoma-of-the-pancreas
#10
JOURNAL ARTICLE
Yina Jiang, Yinying Wu, Liwen Zhang, Yan Wang, Guiping Xu, Yuan Deng, Liang Han, Enxiao Li, Qingyong Ma, Mian Xu, Zheng Wu, Zheng Wang
Adenosquamous carcinoma of the pancreas (ASCP) is a rare histological subtype of pancreatic cancer with a poor prognosis and a high metastasis rate. However, little is known about its genomic landscape and prognostic biomarkers. A total of 48 ASCP specimens and 98 pancreatic ductal adenocarcinoma (PDAC) tumour specimens were sequenced to explore the genomic landscape and prognostic biomarkers. The homozygous deletion of the 9p21.3 region (including CDKN2A, CDKN2B , and MTAP) (9p21 loss) occurred in both ASCP and PDAC, and a higher frequency of 9p21 loss was observed in ASCP (12...
December 2023: Precision Clinical Medicine
https://read.qxmd.com/read/37995304/combined-wnt-activated-deep-penetrating-plexiform-melanocytoma-insights-into-clinicopathological-and-molecular-characterization
#11
JOURNAL ARTICLE
Paola Castillo, Natalia Castrejon, Marta Marginet, Daniela Massi, Francesc Alamon, Cristina Teixido, Carla Montironi, Adriana Garcia-Herrera, Raquel Albero, Jessica Matas, Susana Puig, Llucia Alos
INTRODUCTION: A combined deep penetrating tumor redefined as WNT-activated deep penetrating/plexiform melanocytoma (DPM), may pose challenging clinical and histological diagnoses. OBJECTIVES: This study aims to review the clinicopathological characteristics of combined DPMs and characterize the molecular profile of atypical and malignant forms. METHODS: The study included 51 cases of combined DPMs diagnosed at the Hospital Clinic of Barcelona and the University of Florence between 2012 and 2020...
November 23, 2023: Clinical and Experimental Dermatology
https://read.qxmd.com/read/37971722/nivolumab-for-patients-with-high-risk-oral-leukoplakia-a-nonrandomized-controlled-trial
#12
JOURNAL ARTICLE
Glenn J Hanna, Alessandro Villa, Shuvro P Nandi, Ruichao Shi, Anne ONeill, Mofei Liu, Charles T Quinn, Nathaniel S Treister, Herve Y Sroussi, Piamkamon Vacharotayangul, Laura A Goguen, Donald J Annino, Eleni M Rettig, Vickie Y Jo, Kristine S Wong, Patrick Lizotte, Cloud P Paweletz, Ravindra Uppaluri, Robert I Haddad, Ezra E W Cohen, Ludmil B Alexandrov, William N William, Scott M Lippman, Sook-Bin Woo
IMPORTANCE: Proliferative verrucous leukoplakia (PVL) is an aggressive oral precancerous disease characterized by a high risk of transformation to invasive oral squamous cell carcinoma (OSCC), and no therapies have been shown to affect its natural history. A recent study of the PVL immune landscape revealed a cytotoxic T-cell-rich microenvironment, providing strong rationale to investigate immune checkpoint therapy. OBJECTIVE: To determine the safety and clinical activity of anti-programmed cell death 1 protein (PD-1) therapy to treat high-risk PVL...
November 16, 2023: JAMA Oncology
https://read.qxmd.com/read/37908774/cna-landscape-of-her2-negative-breast-cancer-in-anthracycline-based-neoadjuvant-chemotherapy-regimens
#13
JOURNAL ARTICLE
M K Ibragimova, E A Kravtsova, M M Tsyganov, N V Litviakov
Critical evaluation of how and when to include anthracyclines in preoperative chemotherapy is becoming more relevant in an era when the molecular genetic approach not only allows for the development of biologically targeted therapeutics, but also implies the ability to select the patients likely to benefit from certain cytotoxic agents. Changes in the copy number aberration (CNA) landscape of luminal B HER2- negative (HER2-) breast cancer (BC) during anthracycline-based neoadjuvant chemotherapy (NAC) regimens were studied in order to identify groups of potential CNA markers of objective response and CNA markers for predicting the development of hematogenous metastasis...
2023: Acta Naturae
https://read.qxmd.com/read/37856952/spitz-tumor-with-raf1-fusion-a-report-of-3-cases
#14
JOURNAL ARTICLE
Michele Donati, Daniel Nosek, Shantel Olivares, Julie Lemahieu, Siebe Loontiens, Boulos Mansour, Pedram Gerami, Dmitry V Kazakov
Spitz tumors are melanocytic neoplasms morphologically characterized by spindled and/or epithelioid cells and specific stromal and epidermal changes associated with mutually exclusive fusion kinases involving ALK, ROS1, NTRK1, NTRK2, NTRK3, MET and RET, BRAF and MAP3K8 genes or, less commonly, HRAS mutation. RAF1 fusions have been recently detected in cutaneous melanocytic neoplasms, including conventional melanoma, congenital nevus and BAP-1 inactivated tumors. We report herewith three Spitz neoplasms with a RAF1 fusion, including a previously reported CTDSPL::RAF1 fusion and two novel PPAP2B::RAF1 and ATP2B4::RAF1 fusions...
October 5, 2023: Annals of Diagnostic Pathology
https://read.qxmd.com/read/37832109/evolution-of-the-search-for-a-common-mechanism-of-congenital-risk-of-coronary-heart-disease-and-type-2-diabetes-mellitus-in-the-chromosomal-locus-9p21-3
#15
JOURNAL ARTICLE
Valeriy Benberin, Raushan Karabaeva, Nazgul Kulmyrzaeva, Rauza Bigarinova, Tamara Vochshenkova
9.21.3 chromosomal locus predisposes to coronary heart disease (CHD) and type 2 diabetes mellitus (DM2), but their overall pathological mechanism and clinical applicability remain unclear. The review uses publications of the study results of 9.21.3 chromosomal locus in association with CHD and DM2, which are important for changing the focus of clinical practice. The eligibility criteria are full-text articles published in the PubMed database (MEDLINE) up to December 31, 2022. A total of 56 publications were found that met the inclusion criteria...
October 13, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/37795443/the-potential-and-challenges-of-targeting-mtap-negative-cancers-beyond-synthetic-lethality
#16
REVIEW
Chandler Bray, Cristina Balcells, Iain A McNeish, Hector C Keun
Approximately 15% of cancers exhibit loss of the chromosomal locus 9p21.3 - the genomic location of the tumour suppressor gene CDKN2A and the methionine salvage gene methylthioadenosine phosphorylase ( MTAP ). A loss of MTAP increases the pool of its substrate methylthioadenosine (MTA), which binds to and inhibits activity of protein arginine methyltransferase 5 (PRMT5). PRMT5 utilises the universal methyl donor S-adenosylmethionine (SAM) to methylate arginine residues of protein substrates and regulate their activity, notably histones to regulate transcription...
2023: Frontiers in Oncology
https://read.qxmd.com/read/37785133/exploration-of-multiomic-profiles-and-biomarkers-as-predictors-of-neoadjuvant-chemoradiotherapy-responsiveness-in-esophageal-squamous-cell-carcinoma
#17
JOURNAL ARTICLE
Y Li, J Liu, G Z Wang, W Yu, X Cai, H Li, Y Cheng, X Y Song, X L Fu
PURPOSE/OBJECTIVE(S): The current gold standard of care for resectable locally advanced esophageal cancer is neoadjuvant chemoradiotherapy (NCRT) followed by surgery. Given that only 30-40% of patients with esophageal squamous cell carcinoma (ESCC) achieved a pathologic complete response (pCR) following neoadjuvant chemoradiotherapy, it is critical to understand the biological basis of NCRT resistance in esophageal cancer and identify biomarkers for these patients in order to further personalize treatment plans...
October 1, 2023: International Journal of Radiation Oncology, Biology, Physics
https://read.qxmd.com/read/37754816/influence-of-chromosome-9p21-3-rs1333049-variant-on-telomere-length-and-their-interactive-impact-on-the-prognosis-of-coronary-artery-disease
#18
JOURNAL ARTICLE
Andrea Borghini, Antonella Mercuri, Jonica Campolo, Marina Parolini, Rudina Ndreu, Stefano Turchi, Maria Grazia Andreassi
BACKGROUND: Both telomere shortening and the chromosome 9p21.3 (Chr9p21) rs1333049 (G/C) variant are involved in coronary artery disease (CAD) risk, likely affecting mechanisms related to cell cycle arrest and vascular senescence. The aim of the study was to examine the link between Chr9p21 rs1333049 variant and leucocyte telomere length (LTL), as well as their interactive effect on the risk of major adverse cardiovascular events (MACEs). METHODS: A cohort of 472 patients with angiographically proven and clinically stable CAD were included in the study...
September 7, 2023: Journal of Cardiovascular Development and Disease
https://read.qxmd.com/read/37665723/an-isochromosome-9q-a-rare-event-in-pediatric-b-all
#19
JOURNAL ARTICLE
Babu Sruthi, Tahmeena Ahmed, Rodrigo Hurtado, Ann-Leslie Berger-Zaslav, Daniel Tully, Htien Lee, Gabriela Evans, Cynthia Poerio, Carlos A Tirado
B-cell acute lymphoblastic leukemia (B-ALL) is one of the most common leukemias affecting the pediatric population. It represents ~25% of cancer diagnoses among children. Specific genetic changes predict the prognosis in B-ALL with recurrent genetic changes. Here we present a case report of a 20-year-old male with B-ALL. The patient presented with acute onset worsening upper extremity pain with pallor, weight loss, dizziness, fatigue, and abnormal complete blood count (CBC). Conventional cytogenetics showed a karyotype of 46,XY,add(9)(q13),i(9)(q10)[19]...
2023: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/37653506/association-between-cyclin-dependent-kinase-inhibitor-2b-antisense-rna-1-and-zinc-finger-homeobox-3-gene-polymorphisms-and-covid-19-severity
#20
JOURNAL ARTICLE
Eman A Badr, Nesreen G Elhelbawy, Alaa Osama Nagy, Amany A Sultan, Shereen S Elnaidany
BACKGROUND: There is no doubt about the cardiovascular complications of coronavirus disease 2019 (COVID-19). Several genetic studies have demonstrated an association between genetic variants in a region on chromosome 9p21 and in a region on chromosome 16q22 with myocardial infarction (MI) and atrial fibrillation (AF) accompanied by cerebral infarction (CI), respectively. OBJECTIVES: MI and CI susceptibility in patients with CDKN2B-AS1 and ZFHX3 polymorphisms, respectively, may have an effect on COVID-19 severity...
August 31, 2023: BMC Infectious Diseases
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