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retinoblastoma genetics

Christopher J Schwartz, Cynthia A Schandl, Jennifer Morse, Jonathan Ralston, Amy Rapkiewicz, Farbod Darvishian
Myxoid lesions of the breast can be diagnostically challenging entities. We report 4 cases of CD34+ fibromyxoid lesion that have been previously diagnosed as "benign myxoid lesion," "nodular mucinosis," or "mammary myofibroblastoma, myxoid type" on the basis of CD34-positivity. The lesions were microscopically well circumscribed and composed of a paucicellular spindle cell proliferation in a background of myxoid stroma. No epithelial component was identified. The spindle cells showed immunohistochemical reactivity for CD34 and smooth muscle actin...
March 1, 2018: International Journal of Surgical Pathology
Hongyang Lu, Bo Chen, Jing Qin, Fajun Xie, Na Han, Zhiyu Huang
The present study describes the case of a 48-year-old man who was diagnosed with lung adenocarcinoma with an epidermal growth factor receptor (EGFR) 21 L858R mutation. The patient received surgery and adjuvant chemotherapy. When multiple lung metastases appeared, icotinib was administered. Following resistance to icotinib, biopsy by endobroncheal ultrasonography for a right lung hilar lymph node revealed transformation to a neuroendocrine morphology. Neuron-specific enolase (NSE) levels were elevated, accompanied with disease progression following transformation to the neuroendocrine morphology...
April 2018: Oncology Letters
Sarah E Kohe, Christopher D Bennett, Simrandip K Gill, Martin Wilson, Carmel McConville, Andrew C Peet
The rare pediatric embryonal tumors retinoblastoma, medulloblastoma and neuroblastoma derive from neuroectodermal tissue and share similar histopathological features despite different anatomical locations and diverse clinical outcomes. As metabolism can reflect genetic and histological features, we investigated whether the metabolism of embryonal tumors reflects their similar histology, shared developmental and neural origins, or tumor location. We undertook metabolic profiling on 50 retinoblastoma, 39 medulloblastoma and 70 neuroblastoma using high resolution magic angle spinning magnetic resonance spectroscopy (1H-MRS)...
February 16, 2018: Oncotarget
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum...
March 9, 2018: Cytogenetic and Genome Research
Norbert Bornfeld, Eva Biewald, Sebastian Bauer, Petra Temming, Dietmar Lohmann, Michael Zeschnigk
BACKGROUND: Recent years have seen major changes in the diagnosis and treatment of solid intraocular tumors, mainly owing to an improved molecular biological understanding of their pathogenesis, new therapeutic approaches for the local treatment of tumors in children, and long-term follow-up observations in clinical trials. METHODS: This review is based on pertinent publications retrieved by a selective search in PubMed. RESULTS: Retinoblastoma is the most common type of primary intraocular tumor, with approximately 8000 new cases per year around the world, while malignant melanoma of the uvea is the most common primary intraocular tumor in adults, with approximately 7000 new cases per year around the world...
February 16, 2018: Deutsches Ärzteblatt International
Swathi Kaliki, Shweta Gupta Rathi, Anamika Patel
PURPOSE: To discuss the importance of routine ophthalmic examination of parents and siblings of retinoblastoma (RB) patients. METHODS: Prospective nonrandomized observational/interventional case series of consecutive families of 131 RB patients. RESULTS: Routine ophthalmic examination of families (parents and siblings) of 131 consecutive newly diagnosed RB patients, including 262 parents and 23 siblings, revealed spontaneously regressed RB in at least 1 parent of 10 (8%) patients and active RB in at least 1 sibling of 3 (2%) patients...
February 21, 2018: Retina
Thomas Naert, Kris Vleminckx
At this time, no molecular targeted therapies exist for treatment of retinoblastoma. This can be, in part, attributed to the lack of animal models that allow for both rapid identification of novel therapeutic targets and hypothesis driven drug testing. Within this scope, we have recently reported the first genuine genetic nonmammalian retinoblastoma cancer model within the aquatic model organism Xenopus tropicalis (Naert et al., Sci Rep 6: 35263, 2016). Here we describe the methods to generate rb1 mosaic mutant Xenopus tropicalis by employing the CRISPR/Cas9 technology...
2018: Methods in Molecular Biology
Ainhoa Iglesias-Ara, Nerea Osinalde, Ana M Zubiaga
The E2F transcription factors are key targets for the retinoblastoma (RB) tumor suppressor function. The active or inactive status of RB determines the degree by which E2F-dependent gene expression will occur in a given condition. Changes in transcriptional activity in response to extracellular or intracellular stimuli are frequently measured using genetic reporter assays. In particular, dual luciferase reporter assays are most recommended for this purpose because of their improved experimental accuracy. Here we illustrate the usefulness of the dual luciferase reporter assay to detect E2F-mediated transcriptional activity upon overexpression of E2F1 in cultured cells as readout for RB status and function...
2018: Methods in Molecular Biology
Ruby Del Risco Kollerud, Karl Gerhard Blaasaas, Bjørgulf Claussen, Per Nafstad, Lisa A Cannon-Albright, Ellen Ruud, Finn Wesenberg, Øyvind Næss
BACKGROUND: It is not clear if family history of cancer increases risk of cancer in children. METHODS: We followed-up a total of 2 610 937 children born between 1960 and 2001 for cancer risk, and their parents and siblings. In this period, 2477 primary childhood solid tumours (except lymphoma) were diagnosed. The data from the Norwegian Family and Life Course Study and from the Norwegian Cancer Register were used. Classification of hereditary cancer syndromes was based on tumour histology, pedigrees and Chompret's criteria...
February 20, 2018: British Journal of Cancer
Jessica A Hill, Amal Gedleh, Siwon Lee, Kaitlyn A Hougham, Helen Dimaras
Clinical genetic services are increasingly providing a more nuanced understanding of genetic disease diagnostics and future risk for patients. Effectively conveying genetic information is essential for patients to make informed decisions. This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring...
January 29, 2018: European Journal of Human Genetics: EJHG
Xuemei Chen, Patricia Elena Kunda, Jianwei Lin, Meiling Zhou, Jinghan Huang, Huqin Zhang, Tao Liu
PURPOSE: Retinoblastoma (RB) is the most common primary intraocular tumor in children. Chemotherapy is currently the main method of RB treatment. Unfortunately, RB often becomes chemoresistant and turns lethal. Here, we used in vitro cell immunotherapy to explore whether adoptive immunotherapy could be used as a potential treatment for RB. We focused on spleen tyrosine kinase (SYK), which is significantly upregulated in RB cells and serves as a marker for RB cells. METHODS: Using lentiviruses, we genetically modified dendritic cells (DCs) to express and present the SYK peptide antigen to cytotoxic T lymphocytes (CTLs) in vitro...
January 25, 2018: Journal of Cancer Research and Clinical Oncology
Sameh E Soliman, Crystal N D'Silva, Helen Dimaras, Irakli Dzneladze, Helen Chan, Brenda L Gallie
BACKGROUND: Children with retinoblastoma treated with carboplatin chemotherapy risk moderate to severe, irreversible hearing loss. Based on published evidence, we hypothesized that ototoxicity risk is associated with clinical parameters and variants in candidate genes in drug metabolism pathways (methyltransferases [thiopurine S-methyltransferase, TPMT] and [catechol-O-methyltransferase, COMT], and drug transporter ABCC3). PROCEDURE: We retrospectively reviewed clinical records of patients with retinoblastoma treated with carboplatin chemotherapy regarding age (at diagnosis and chemotherapy initiation), chemotherapy sessions (cycles number, drug doses, and cumulative carboplatin dose), and hearing loss (defined as ototoxicity ≥grade 2 by at least one classification system)...
January 19, 2018: Pediatric Blood & Cancer
Ido D Fabian, Zerrin Onadim, Esin Karaa, Catriona Duncan, Tanzina Chowdhury, Irene Scheimberg, Shin-Ichi Ohnuma, M Ashwin Reddy, Mandeep S Sagoo
Retinoblastoma (Rb) is the most common primary intraocular malignancy of childhood, but an uncommon paediatric cancer, with a constant incidence worldwide of 1:15,000-1:20,000 live births. Despite its rarity, Rb has served as a cornerstone in the field of oncology in many of the aspects that comprise cancer management, including classification schemes, treatment modalities, genetic testing and screening. Until just over half a century ago, the major treatment for Rb was eye removal, and prognosis was poor with outcome fatal for most children...
January 11, 2018: Oncogene
Dezső David, Deepti Anand, Carlos Araújo, Brian Gloss, Joana Fino, Marcel Dinger, Päivi Lindahl, Minna Pöyhönen, Laivuori Hannele, João Lavinha
Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. The aim of this study is the identification of molecular genetic alterations responsible for those ocular anomalies with neurologic impairment in an individual with a de novo balanced chromosome translocation t(11;18)(q23.3;q11.2)dn. Disruption of OAF, the human orthologue of the Drosophila oaf, by the 11q23.3 breakpoint results in reduced expression of this transcriptional regulator. Furthermore, four most likely nonfunctional chimeric transcripts comprising up to OAF exon 3, derived from the der(11) allele, have also been identified...
January 2, 2018: Experimental Eye Research
Jesse L Berry, Laura Lewis, Emily Zolfaghari, Sarah Green, Bao Han A Le, Thomas C Lee, A Linn Murphree, Jonathan W Kim, Rima Jubran
No abstract text is available yet for this article.
December 29, 2017: Ophthalmic Genetics
Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto, Irene Szijan
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-heritable and results from two somatic mutations whereas bilateral retinoblastoma is heritable and results from one germline and one somatic mutation, both have high penetrance, 90%...
2017: PloS One
Amal Gedleh, Siwon Lee, Jessica A Hill, Yvonne Umukunda, Seemi Qaiser, Joy Kabiru, Kahaki Kimani, Lucy Njambi, Grace Kitonyi, Helen Dimaras
Genetic testing and counseling have become integral to the timely control of heritable cancers, like the childhood eye cancer retinoblastoma. This study aimed to determine attitudes, knowledge and experiences related to retinoblastoma genetics, among survivors and parents of children with retinoblastoma in Kenya. This qualitative study used focus groups as the primary data collection method, coupled with a brief demographic questionnaire. Study settings were Kenyatta National Hospital and Presbyterian Church of East Africa Kikuyu Hospital...
November 23, 2017: Journal of Genetic Counseling
Sonya Stenfelt, Maria K E Blixt, Charlotta All-Ericsson, Finn Hallböök, Henrik Boije
Retinoblastoma, an intraocular pediatric cancer, develops in the embryonic retina following biallelic loss of RB1. However, there is a wide range of genetic and epigenetic changes that can affect RB1 resulting in different clinical outcomes. In addition, other transformations, such as MYCN amplification, generate particularly aggressive tumors, which may or may not be RB1 independent. Recognizing the cellular characteristics required for tumor development, by identifying the elusive cell-of-origin for retinoblastoma, would help us understand the development of these tumors...
November 9, 2017: Clinical and Translational Medicine
Paola Friedrich, Elena Itriago, Carlos Rodriguez-Galindo, Karina Ribeiro
Background: Few studies have comparatively assessed differences in the incidence of childhood cancer by race and ethnicity that could inform etiologic research. We aimed to identify disparities in the incidence of pediatric extracranial embryonal tumors by race and ethnicity in the United States using a population-based cancer registry. Methods: Cases of extracranial embryonal tumors among children age 0 to 19 years diagnosed between 2000 and 2010 were retrieved from the Surveillance, Epidemiology, and End Results Program 18 (n = 8188)...
October 1, 2017: Journal of the National Cancer Institute
Angela Chou, Danielle Froio, Adnan M Nagrial, Ashleigh Parkin, Kendelle J Murphy, Venessa T Chin, Dalia Wohl, Angela Steinmann, Rhys Stark, Alison Drury, Stacey N Walters, Claire Vennin, Andrew Burgess, Mark Pinese, Lorraine A Chantrill, Mark J Cowley, Timothy J Molloy, Nicola Waddell, Amber Johns, Sean M Grimmond, David K Chang, Andrew V Biankin, Owen J Sansom, Jennifer P Morton, Shane T Grey, Thomas R Cox, John Turchini, Jaswinder Samra, Stephen J Clarke, Paul Timpson, Anthony J Gill, Marina Pajic
OBJECTIVE: Extensive molecular heterogeneity of pancreatic ductal adenocarcinoma (PDA), few effective therapies and high mortality make this disease a prime model for advancing development of tailored therapies. The p16-cyclin D-cyclin-dependent kinase 4/6-retinoblastoma (RB) protein (CDK4) pathway, regulator of cell proliferation, is deregulated in PDA. Our aim was to develop a novel personalised treatment strategy for PDA based on targeting CDK4. DESIGN: Sensitivity to potent CDK4/6 inhibitor PD-0332991 (palbociclib) was correlated to protein and genomic data in 19 primary patient-derived PDA lines to identify biomarkers of response...
October 28, 2017: Gut
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