keyword
https://read.qxmd.com/read/38033971/immunohistochemical-expression-of-e-cadherin-and-cyclin-d1-in-different-grades-of-oral-squamous-cell-carcinoma
#21
JOURNAL ARTICLE
Mohammad S Dar, Rezhat Abbas, Zeenat Shah, Suheel H Latoo, Owais Gowhar
BACKGROUND: Oral squamous cell carcinoma (OSCC) is the most common oral malignancy, representing up to 80-90% of all malignant neoplasms of the oral cavity. It results from the multistep accumulation of heterogeneous genetic changes. Important risk factors for OSCC include the use of tobacco or betel quid chewing, alcohol consumption, human papillomavirus and poor nutrition. E-Cadherin as a tumour suppressor gene sets a threshold for Wnt/ β -catenin signalling. When expression of E-Cadherin is lost, potentiation of Wnt signalling pathway occurs leading to loss of cell-cell adhesion...
2023: Journal of Oral and Maxillofacial Pathology: JOMFP
https://read.qxmd.com/read/38012788/genetic-alterations-that-deregulate-rb-and-pdgfra-signaling-pathways-drive-tumor-progression-in-idh2-mutant-astrocytoma
#22
JOURNAL ARTICLE
Kensuke Tateishi, Yohei Miyake, Taishi Nakamura, Hiromichi Iwashita, Takahiro Hayashi, Akito Oshima, Hirokuni Honma, Hiroaki Hayashi, Kyoka Sugino, Miyui Kato, Kaishi Satomi, Satoshi Fujii, Takashi Komori, Tetsuya Yamamoto, Daniel P Cahill, Hiroaki Wakimoto
In IDH-mutant astrocytoma, IDH2 mutation is quite rare and biological mechanisms underlying tumor progression in IDH2-mutant astrocytoma remain elusive. Here, we report a unique case of IDH2 mutant astrocytoma, CNS WHO grade 3 that developed tumor progression. We performed a comprehensive genomic and epigenomic analysis for primary and recurrent tumors and found that both tumors harbored recurrent IDH2R172K and TP53R248W mutation with CDKN2A/B hemizygous deletion. We also found amplifications of CDK4 and MDM2 with PDGFRA gain in the recurrent tumor and upregulated protein expressions of these genes...
November 27, 2023: Acta Neuropathologica Communications
https://read.qxmd.com/read/37965463/pdgf-ngf-and-egf-as-main-contributors-to-tumorigenesis-in-high-risk-retinoblastoma
#23
JOURNAL ARTICLE
Karim Al-Ghazzawi, Michael Wessolly, Sami Dalbah, Petra Ketteler, Tobias Kiefer, Nikolaos Bechrakis, Jabbarli Leyla, Saskia Ting, Eva Biewald, Fabian D Mairinger
Retinoblastoma (RB) is the most common form of eye cancer experienced in childhood. Its aggressive malignancy is associated with excellent survival rates in high-income countries; however, the prognosis in third-world countries is less favorable. Early diagnosis can maximize the patient's visual outcomes and their survival rate. Therapy should be conducted in highly specialized treatment centers. Intravenous chemotherapy (IVC) in bilaterally affected children currently forms the majority of therapy. Local destructive procedures and local chemotherapies such as intra-arterial chemotherapy (IAC) or intravitreal chemotherapy can be taken into consideration depending on the extent and size of the tumor...
2023: Frontiers in Oncology
https://read.qxmd.com/read/37962685/branchioma-immunohistochemical-and-molecular-genetic-study-of-23-cases-highlighting-frequent-loss-of-retinoblastoma-1-immunoexpression
#24
JOURNAL ARTICLE
Martina Bradová, Lester D R Thompson, Martin Hyrcza, Tomáš Vaněček, Petr Grossman, Michael Michal, Veronika Hájková, Touraj Taheri, Niels Rupp, David Suster, Sunil Lakhani, Dimitar Hadži Nikolov, Radim Žalud, Alena Skálová, Michal Michal, Abbas Agaimy
Branchioma is an uncommon benign neoplasm with an adult male predominance, typically occurring in the lower neck region. Different names have been used for this entity in the past (ectopic hamartomatous thymoma, branchial anlage mixed tumor, thymic anlage tumor, biphenotypic branchioma), but currently, the term branchioma has been widely accepted. Branchioma is composed of endodermal and mesodermal lineage derivatives, in particular epithelial islands, spindle cells, and mature adipose tissue without preexistent thymic tissue or evidence of thymic differentiation...
January 2024: Virchows Archiv: An International Journal of Pathology
https://read.qxmd.com/read/37945522/newly-recognized-genetic-tumor-syndromes-of-the-cns-in-the-5th-who-classification-imaging-overview-with-genetic-updates
#25
REVIEW
Amit Agarwal, Girish Bathla, Neetu Soni, Amit Desai, Pranav Ajmera, Dinesh Rao, Vivek Gupta, Prasanna Vibhute
The nervous system is commonly involved in a wide range of genetic tumor-predisposition syndromes. The classification of genetic tumor syndromes has evolved during the past years; however, it has now become clear that these syndromes can be categorized into a relatively small number of major mechanisms, which form the basis of the new 5th edition of the World Health Organization book (beta online version) on genetic tumor syndromes. For the first time, the World Health Organization has also included a separate chapter on genetic tumor syndromes in the latest edition of all the multisystem tumor series, including the 5th edition of CNS tumors...
November 9, 2023: AJNR. American Journal of Neuroradiology
https://read.qxmd.com/read/37937640/mutant-rb1-enhances-therapeutic-efficacy-of-parpis-in-lung-adenocarcinoma-by-triggering-the-cgas-sting-pathway
#26
JOURNAL ARTICLE
Qi Dong, Tong Yu, Bo Chen, Mingyue Liu, Xiang Sun, Huiying Cao, Kaidong Liu, Huanhuan Xu, Yuquan Wang, Shuping Zhuang, Zixin Jin, Haihai Liang, Yang Hui, Yunyan Gu
Poly (ADP-ribose) polymerase inhibitors (PARPis) are approved for cancer therapy according to their synthetic lethal interactions, and clinical trials have been applied in non-small cell lung cancer. However, the therapeutic efficacy of PARPis in lung adenocarcinoma (LUAD) is still unknown. We explored the effect of a mutated retinoblastoma gene (RB1) on PARPi sensitivity in LUAD. Bioinformatic screening was performed to identify PARPi-sensitive biomarkers. Here, we showed that viability of LUAD cell lines with mutated RB1 was significantly decreased by PARPis (niraparib, rucaparib, and olaparib)...
November 8, 2023: JCI Insight
https://read.qxmd.com/read/37932687/rb1-screening-of-retinoblastoma-patients-in-sri-lanka-using-targeted-next-generation-sequencing-ngs-and-gene-ratio-analysis-copy-enumeration-pcr-grace-pcr
#27
JOURNAL ARTICLE
Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Dinali Ranaweera, Prashanth Suravajhala, Vishvanath Chandrasekharan
BACKGROUND: Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months respectively. Approximately 10% are familial. Systematic genetic testing for germline pathogenic variants of RB1, the only gene associated with an inherited risk of RB, is unavailable in Sri Lanka. Genetic testing optimizes management of affected children and at-risk siblings...
November 6, 2023: BMC Medical Genomics
https://read.qxmd.com/read/37932244/an-overview-of-rb1-transcript-alterations-detected-during-retinoblastoma-genetic-screening
#28
JOURNAL ARTICLE
Elizabeth A Price, Mandeep S Sagoo, M Ashwin Reddy, Zerrin Onadim
Identification of pathogenic RB1 variants aids in the clinical management of families with retinoblastoma. We routinely screen DNA for RB1 variants, but transcript analysis can also be used for variant screening, and to help decide variant pathogenicity. DNA was screened by conformation analysis followed by Sanger sequencing. Large deletion/insertions were detected by polymorphism analysis, MLPA and quantitative-PCR. Methylation-specific PCR was used to detect hypermethylation. RNA screening was performed when a DNA pathogenic variant was missing, or to determine effects on splicing...
November 6, 2023: Ophthalmic Genetics
https://read.qxmd.com/read/37922949/fibroepithelial-stromal-polyp-of-the-vulvovaginal-region-as-part-of-the-rb1-family-of-tumors-friend-or-foe
#29
JOURNAL ARTICLE
Fleur Cordier, Nadine Van Roy, Bart Matthys, Pascale De Paepe, Koen Van de Vijver, Jo Van Dorpe, David Creytens
Fibroepithelial stromal polyps (FSPs) are benign mesenchymal lesions occurring in the vulvovaginal region. Following the identification of loss of Retinoblastoma 1 (RB1) on immunohistochemical staining in routine practice, we stained a series of FSPs and performed additional fluorescence in situ hybridization (FISH) and copy number variation (CNV) sequencing to detect losses/deletions in the Retinoblastoma transcriptional corepressor 1 (RB1) gene. Fifteen FSP cases were stained for RB1, and subsequently, 9 cases were examined by FISH to detect a loss of RB1 (13q)...
October 4, 2023: International Journal of Gynecological Pathology
https://read.qxmd.com/read/37900191/diffuse-infiltrating-retinoblastoma-with-anterior-chamber-involvement-conservative-management-and-identification-of-rb1-alterations-in-aqueous-humor
#30
JOURNAL ARTICLE
Nathalie Cassoux, Denis Malaise, Livia Lumbroso-Le-Rouic, Jessica Le Gall, Lisa Golmard, Liesbeth Cardoen, Paul Freneaux, Yassine Bouchoucha, Isabelle Aerts, François Doz, Alexandre Matet
INTRODUCTION: The aim of the study was to describe the successful conservative management of diffuse infiltrating retinoblastoma (DIR). Identification of RB1 pathogenic variant was done after cell-free DNA (cfDNA) analysis in aqueous humor. CASE PRESENTATION: Herein, we report 2 patients with unilateral, non-familial DIR with anterior and posterior involvement. Both patients underwent liquid biopsy for tumor cfDNA analysis in aqueous humor. Treatment consisted of a combination of systemic and intra-arterial chemotherapy, with consecutive intracameral and intravitreal injections of melphalan...
September 2023: Ocular Oncology and Pathology
https://read.qxmd.com/read/37866539/neonatal-per-and-polyfluoroalkyl-substance-exposure-in-relation-to-retinoblastoma
#31
JOURNAL ARTICLE
Yixin Chen, Kimberly C Paul, Douglas I Walker, Dean P Jones, Xuexia Wang, Beate R Ritz, Julia E Heck
BACKGROUND: Neonatal per- and polyfluoroalkyl substance (PFAS) exposure can disrupt hormonal homeostasis and induce neuro- and immunotoxicity in children. In this exploratory study, we investigated associations between PFAS levels in neonatal dried blood spots and retinoblastoma risk. MATERIALS AND METHODS: This study included 501 retinoblastoma cases born from 1983 to 2011 and 899 controls frequency-matched by birth year (20:1 matching ratio), born to 755 US-born and 366 Mexico-born mothers in California...
October 20, 2023: Environmental Research
https://read.qxmd.com/read/37846358/genomic-instability-and-eye-diseases
#32
REVIEW
Hongyan Liu, Jun Cheng, Xiaoyun Zhuang, Benxiang Qi, Fenfen Li, Bining Zhang
BACKGROUND: Genetic information is stored in the bases of double-stranded DNA. However, the integrity of DNA molecules is constantly threatened by various mutagenic agents, including pollutants, ultraviolet light (UV), and medications. To counteract these environmental damages, cells have established multiple mechanisms, such as producing molecules to identify and eliminate damaged DNA, as well as reconstruct the original DNA structures. Failure or insufficiency of these mechanisms can cause genetic instability...
2023: Adv Ophthalmol Pract Res
https://read.qxmd.com/read/37843278/x-linked-rbbp7-mutation-causes-maturation-arrest-and-testicular-tumors
#33
JOURNAL ARTICLE
Jingping Li, Huimei Zheng, Jiaru Hou, Jianhua Chen, Fengbin Zhang, Xiaohang Yang, Fan Jin, Yongmei Xi
Maturation arrest (MA) is a subtype of non-obstructive azoospermia, and male infertility is a known risk factor for testicular tumors. However, the genetic basis for many affected individuals remains unknown. Here, we identified a deleterious hemizygous variant of X-linked retinoblastoma-binding protein 7 (RBBP7) as a potential key cause of MA, which was also found to be associated with the development of Leydig cell tumors. This mutation resulted in premature protein translation termination, affecting the sixth WD40 domain of the RBBP7 and the interaction of the mutated RBBP7 with histone H4...
October 16, 2023: Journal of Clinical Investigation
https://read.qxmd.com/read/37833038/subset-of-retinoblastoma-tumours-is-associated-with-brca1-2-mutations
#34
JOURNAL ARTICLE
Yong Joon Kim, Hyo Song Park, Jeonghwan Youk, Jung Woo Han, Suk Ho Byeon, Sung Soo Kim, Young Seok Ju, Christopher Seungkyu Lee
BACKGROUND: We investigated the potential association between pathogenic BRCA1/2 variants and retinoblastoma pathogenicity. METHODS: In this single-centre, retrospective case series, we performed hereditary cancer panel tests using blood samples for patients with retinoblastoma diagnosed between March 2017 and October 2021. Bioinformatics prediction tools were then used to conduct in silico pathogenicity assessments for patients with BRCA1/2 family variants, in addition to the American College of Medical Genetics and Genomics (ACMG) variant classification...
October 13, 2023: British Journal of Ophthalmology
https://read.qxmd.com/read/37743524/discovery-of-cancer-preventive-juices-reactivating-rb-functions
#35
JOURNAL ARTICLE
Mitsuharu Masuda, Mano Horinaka, Shusuke Yasuda, Mie Morita, Emi Nishimoto, Hideki Ishikawa, Michihiro Mutoh, Toshiyuki Sakai
BACKGROUND: Recent advances have been achieved in the genetic diagnosis and therapies against malignancies due to a better understanding of the molecular mechanisms underlying carcinogenesis. Since active preventive methods are currently insufficient, the further development of appropriate preventive strategies is desired. METHODS: We searched for drinks that reactivate the functions of tumor-suppressor retinoblastoma gene (RB) products and exert anti-inflammatory and antioxidant effects...
2023: Environmental Health and Preventive Medicine
https://read.qxmd.com/read/37682130/rb1-gene-mutations-and-genetic-spectrum-in-retinoblastoma-cases
#36
JOURNAL ARTICLE
Demet Akdeniz Odemis, Rejin Kebudi, Jamila Bayramova, Seda Kilic Erciyas, Gozde Kuru Turkcan, Seref Bugra Tuncer, Ozge Sukruoglu Erdogan, Betul Celik, Busra Kurt Gultaslar, Sema Buyukkapu Bay, Samuray Tuncer, Hulya Yazici
The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm...
September 8, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/37667345/retinoblastoma-present-scenario-and-future-challenges
#37
REVIEW
Vishnu Vardhan Byroju, Aisha Shigna Nadukkandy, Marco Cordani, Lekha Dinesh Kumar
With an average incidence of 1 in every 18,000 live births, retinoblastoma is a rare type of intraocular tumour found to affect patients during their early childhood. It is curable if diagnosed at earlier stages but can become life-threateningly malignant if not treated timely. With no racial or gender predisposition, or even environmental factors known to have been involved in the incidence of the disease, retinoblastoma is often considered a clinical success story in pediatric oncology. The survival rate in highly developed countries is higher than 95% and they have achieved this because of the advancement in the development of diagnostics and treatment techniques...
September 4, 2023: Cell Communication and Signaling: CCS
https://read.qxmd.com/read/37658463/genetics-in-ophthalmology-molecular-blueprints-of-retinoblastoma
#38
REVIEW
Leon Marković, Anja Bukovac, Ana Maria Varošanec, Nika Šlaus, Nives Pećina-Šlaus
This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular tumor with hereditary and sporadic forms. 8,000 new cases of this ocular malignancy of the developing retina are diagnosed each year worldwide. The major gene responsible for retinoblastoma is RB1, and it harbors a large spectrum of pathogenic variants. Tumorigenesis begins with mutations that cause RB1 biallelic inactivation preventing the production of functional pRB proteins. Depending on the type of mutation the penetrance of RB is different...
September 1, 2023: Human Genomics
https://read.qxmd.com/read/37604323/rb1-5%C3%AC-utr-contains-an-ires-related-to-cell-cycle-control-and-cancer-progression
#39
JOURNAL ARTICLE
Wennan Ma, Bei Ma, Jing Ma, Ruiyu Zhu
Retinoblastoma gene1(RB1) is the first tumor suppressor gene that stands as the guardian of the gate of the G1 period and plays a central role in proliferation and differentiation. However, no reports focused on the possible internal ribosome entry site (IRES) function of the RB1 gene flanking sequence. In this study, we constructed a bicistronic reporter with the RB1 5'untranslated region (5́UTR) inserted between two reporter coding regions. We found RB1 5'UTR harbors an IRES and has higher activity in cancer cell lines than normal cells...
August 19, 2023: Gene
https://read.qxmd.com/read/37602348/clinical-and-genetic-characteristics-of-retinoblastoma-patients-in-a-single-center-with-four-novel-rb1-variants
#40
JOURNAL ARTICLE
Özge Vural, Hatice Tuba Atalay, Gulsum Kayhan, Bercin Tarlan, Merve Oral, Arzu Okur, Faruk Güçlü Pınarlı, Ceyda Karadeniz
AIM: To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma (RB) at Gazi University Faculty of Medicine's Department of Pediatric Oncology. METHODS: All cases diagnosed with RB and received treatment and follow-up in the Ophthalmology and Pediatric Oncology Department, October 2016 to May 2021 were evaluated retrospectively. The RB1 gene was analyzed by next-generation sequencing (NGS) technique in DNAs obtained from peripheral blood samples of the patients...
2023: International Journal of Ophthalmology
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