Amelia Casamassimi, Monica Rienzo, Erika Di Zazzo, Anna Sorrentino, Donatella Fiore, Maria Chiara Proto, Bruno Moncharmont, Patrizia Gazzerro, Maurizio Bifulco, Ciro Abbondanza
The PR/SET domain family (PRDM) comprise a family of genes whose protein products share a conserved N-terminal PR [PRDI-BF1 (positive regulatory domain I-binding factor 1) and RIZ1 (retinoblastoma protein-interacting zinc finger gene 1)] homologous domain structurally and functionally similar to the catalytic SET [Su(var)3-9, enhancer-of-zeste and trithorax] domain of histone methyltransferases (HMTs). These genes are involved in epigenetic regulation of gene expression through their intrinsic HMTase activity or via interactions with other chromatin modifying enzymes...
April 10, 2020: International Journal of Molecular Sciences
Ahmad Sweid, Batoul Hammoud, Joshua H Weinberg, Pavlos Texakalidis, Vivian Xu, Kavya Shivashankar, Michael P Baldassari, Somnath Das, Stavropoula I Tjoumakaris, Carol L Shields, David A Lezama, Li-Anne S Lim, Lauren A Dalvin, Kareem El Naamani, Pascal Jabbour
BACKGROUND: Intra-arterial chemotherapy (IAC) for retinoblastoma (Rb) has been established as a primary treatment for the disease. To determine whether the presence of reflux into the ICA is associated with tumor response or with any other adverse events in pediatric retinoblastoma patients. METHODS: A retrospective chart review was performed for patients diagnosed with Rb and managed with ophthalmic artery catheterization (OAC). RESULTS: The total study cohort included 205 Rb tumors of 205 eyes in 194 consecutive patients who underwent 624 successful intra-arterial chemotherapy infusions using OAC...
April 9, 2020: Journal of Neurointerventional Surgery
Travis Peck, Kalla A Gervasio, Paul J L Zhang, Carol L Shields, Sara E Lally, Ralph C Eagle, Tatyana Milman
Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) is an indolent, locally aggressive mesenchymal neoplasm, most often confined to the lower extremities and retroperitoneum and rarely identified in the orbit. Diagnosis of ALT/WDL can be challenging due to its frequent morphologic overlap with benign adipose lesions and other more aggressive liposarcoma subtypes, including myxoid liposarcoma. We describe a 26-year-old female with a history of hereditary retinoblastoma and external-beam radiotherapy to the orbit, who developed orbital liposarcoma...
March 2020: Ocular Oncology and Pathology
Erik S Knudsen, Ram Nambiar, Spencer R Rosario, Dominic J Smiraglia, David W Goodrich, Agnieszka K Witkiewicz
The retinoblastoma tumor suppressor gene (RB1) plays a critical role in coordinating multiple pathways that impact cancer initiation, disease progression, and therapeutic responses. Here we probed molecular features associated with the RB-pathway across 31 tumor-types. While the RB-pathway has been purported to exhibit multiple mutually exclusive genetic events, only RB1 alteration is mutually exclusive with deregulation of CDK4/6 activity. An ER+ breast cancer model with targeted RB1 deletion was used to identify signatures of CDK4/6 activity and RB-dependency (CDK4/6-RB integrated signature)...
April 2, 2020: Communications Biology
Lili Wang, Shasha Hu, Fangjie Xin, Han Zhao, Guangqi Li, Wenwen Ran, Xiaoming Xing, Jigang Wang
Intravenous leiomyomatosis (IVL) is a rare neoplasm that is characterized by smooth muscle cell proliferation within venous vessels. The aim of this study is to investigate the clinicopathological features, immunophenotypes, and MED12 gene mutations in IVL. Nine cases of IVL from the Affiliated Hospital of Qingdao University were collected, and the clinicopathological features were reviewed. The immunohistochemical expressions of p16, phosphatase and tensin homolog deleted on chromosome 10 (PTEN), alpha thalassemia/mental retardation syndrome X-linked (ATRX), retinoblastoma 1 (RB1), fumarate hydratase (FH), and p53, were evaluated...
March 30, 2020: Human Pathology
Xiaoping Lan, Wuhen Xu, Xiaojun Tang, Haiyun Ye, Xiaozhen Song, Longlong Lin, Xiang Ren, Guangjun Yu, Hong Zhang, Shengnan Wu
Retinoblastoma (Rb) is a primary intraocular malignant tumor that occurs primarily in children, and results from loss-of-function mutations in the RB transcriptional corepressor 1 ( RB1 ) gene. Genetic testing forms the basis of genetic counseling for affected families, as well as for clinical management of this disease. The aim of this study was to identify germline RB1 mutations and correlate the identified mutations with the clinical features of Rb patients. Genomic DNA was isolated from peripheral blood of 180 unrelated Rb patients and their parents (118 unilaterally and 62 bilaterally affected probands)...
2020: Frontiers in Genetics
Vanessa Eulo, Harry Lesmana, Leona A Doyle, Kim E Nichols, Angela C Hirbe
Secondary sarcomas are a subset of sarcomas that occur in patients with prior cancer diagnoses and are associated with environmental or genetic factors. Although secondary sarcomas are rare in general, there are predisposing factors that can substantially increase this risk in certain populations. Herein, we review the environmental factors with the strongest association of sarcoma risk, including chemical exposure, certain viruses, cytotoxic and immunosuppressive agents, chronic edema, and radiation exposure...
March 2020: American Society of Clinical Oncology Educational Book
Camelia Billard-Sandu, Yun-Gan Tao, Marie-Paule Sablin, Gabriela Dumitrescu, David Billard, Eric Deutsch
PURPOSE: Addition of CDK4/6 inhibitors to a variety of established treatments in squamous cell carcinoma of the head and neck (SCCHN) has the potential to improve responses to other therapies and may help overcome treatment resistance. The SCCHN is a heterogeneous group of cancers of the oral cavity, the pharynx and the larynx with poor prognosis despite the aggressive multimodal therapies. In the past decade, significant advances were made in understanding of the molecular and genetic abnormalities leading to oncogenesis in SCCHN...
May 2020: European Archives of Oto-rhino-laryngology
Mario Zanolli, Joaquín I Oporto, Juan I Verdaguer, Juan Pablo López, Sergio Zacharías, Pablo Romero, Diego Ossandón, Oliver Denk, Olga Acuña, José Manuel López, Ricardo Stevenson, Bernardita Álamos, Hernán Iturriaga
Background : Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago. Materials and methods : One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August 2019 underwent a thorough ophthalmologic examination. Those diagnosed with congenital cataract, retinoblastoma, anterior segment dysgenesis, autoimmune retinal disease, posterior microphthalmia, or cobalamin C deficiency were excluded, along with patients who opted against genetic testing...
February 2020: Ophthalmic Genetics
Armin R Afshar, Melike Pekmezci, Michele M Bloomer, Nicola J Cadenas, Meredith Stevers, Anuradha Banerjee, Ritu Roy, Adam B Olshen, Jessica Van Ziffle, Courtney Onodera, W Patrick Devine, James P Grenert, Boris C Bastian, David A Solomon, Bertil E Damato
PURPOSE: To determine the usefulness of a comprehensive, targeted-capture next-generation sequencing (NGS) assay for the clinical management of children undergoing enucleation for retinoblastoma. DESIGN: Cohort study. PARTICIPANTS: Thirty-two children with retinoblastoma. METHODS: We performed targeted NGS using the UCSF500 Cancer Panel (University of California, San Francisco, San Francisco, CA) on formalin-fixed, paraffin-embedded tumor tissue along with constitutional DNA isolated from peripheral blood, buccal swab, or uninvolved optic nerve...
June 2020: Ophthalmology
Loredana Zocchi, Aditi Mehta, Stephanie C Wu, Jie Wu, Yijun Gu, Jingtian Wang, Susie Suh, Robert C Spitale, Claudia A Benavente
Retinoblastoma is an aggressive childhood cancer of the developing retina that initiates by biallelic RB1 gene inactivation. Tumor progression in retinoblastoma is driven by epigenetics, as retinoblastoma genomes are stable, but the mechanism(s) that drive these epigenetic changes remain unknown. Lymphoid-specific helicase (HELLS) protein is an epigenetic modifier directly regulated by the RB/E2F pathway. In this study, we used novel genetically engineered mouse models to investigate the role of HELLS during retinal development and tumorigenesis...
February 18, 2020: Oncogenesis
Laila Tul Qadar, Syed Ali Shazif Baqari, Hira Maab, Sarrah Ali Asghar, Muhammad Saad Hafeez
13q syndrome is a chromosomal abnormality in which there is a pathognomic deletion of the genetic material on the long arm (q) of chromosome 13. Phenotypes of this syndrome are variable depending on the location of the deleted segment. The main manifestations of the syndrome include mental retardation, craniofacial dysmorphism, and increased susceptibility to tumors. We report a unique case of recurrent sporadic bilateral retinoblastoma (Rb) in a four-year-old boy carrying 13q (q12q14) interstitial deletion, which was treated successfully via enucleation and chemotherapy...
January 10, 2020: Curēus
Aleksandra Pekacka
Introduction . Retinoblastoma is the most common primary intraocular neoplasm in children. With the advances in medicine, the armamentarium of available treatment modalities has grown. Intraarterial chemotherapy is a relatively new treatment method with promising outcomes. The purpose of this literature review is to evaluate its role in the management of retinoblastoma. Methods: A systematic online search was conducted using Ovid Embase and Ovid Medline. The final results included 23 studies...
2020: Journal of Ophthalmology
Joseph Lipsick
Tumor suppressor genes encode critical intracellular regulators, such as the retinoblastoma protein. They control processes including cell proliferation, cell survival, and responses to DNA damage and are frequently mutated in cancer. In this excerpt from his forthcoming book on the history of cancer research, Joe Lipsick looks back at the discovery of tumor suppressor genes, covering the early work on cell fusion by Henry Harris, Knudson's two-hit hypothesis, the genetic mapping studies that first identified the RB gene, and subsequent work on silencing...
February 3, 2020: Cold Spring Harbor Perspectives in Biology
Karen Hoffmann, Hilmar Berger, Hagen Kulbe, Sukanija Thillainadarasan, Hans-Joachim Mollenkopf, Tomasz Zemojtel, Eliane Taube, Silvia Darb-Esfahani, Mandy Mangler, Jalid Sehouli, Radoslav Chekerov, Elena I Braicu, Thomas F Meyer, Mirjana Kessler
High-grade serous ovarian cancer (HGSOC) likely originates from the fallopian tube (FT) epithelium. Here, we established 15 organoid lines from HGSOC primary tumor deposits that closely match the mutational profile and phenotype of the parental tumor. We found that Wnt pathway activation leads to growth arrest of these cancer organoids. Moreover, active BMP signaling is almost always required for the generation of HGSOC organoids, while healthy fallopian tube organoids depend on BMP suppression by Noggin. Fallopian tube organoids modified by stable shRNA knockdown of p53, PTEN, and retinoblastoma protein (RB) also require a low-Wnt environment for long-term growth, while fallopian tube organoid medium triggers growth arrest...
February 3, 2020: EMBO Journal
L Atzori, L Pilloni, R Zanniello, Caterina Ferreli, F Rongioletti
Leiomyosarcoma is a relatively rare soft tissue tumor whose clear cell variant has only been reported in leiomyosarcomas of the uterus. We report here for the first time a primary cutaneous clear-cell leiomyosarcoma in the trunk skin of a 49-year-old man, characterized by a very indolent clinical and dermoscopic presentation, mimicking a dermatofibroma. Genetic analysis of the otherwise healthy patient revealed a germline mutation in the retinoblastoma 1 gene (RB1); the same mutation was found in his son, who had previously developed retinoblastoma...
January 30, 2020: Journal of Cutaneous Pathology
Shijing Wu, Xuan Zou, Zixi Sun, Tian Zhu, Xing Wei, Ruifang Sui
BACKGROUND: Retinocytoma is a rare benign retinal tumor associated with variants in the RB1 gene. Ophthalmoscopic features can include a translucent retinal mass, calcification, retinal pigment epithelial alteration and chorioretinal atrophy. METHODS: Detailed ophthalmological examinations were performed in a Chinese patient with retinocytoma and his daughter with bilateral retinoblastoma. Sanger sequencing was performed to detect RB1 genetic variants in the patient, his daughter and tumor tissue from his daughter...
January 29, 2020: Molecular Genetics & Genomic Medicine
Shilpa Bisht, Bhavna Chawla, Madhuri Tolahunase, Richa Mishra, Rima Dada
Background: Childhood cancers are associated with a psychological burden to the parents and hence, decline their mental and physical health and overall quality of life. Purpose: The purpose of the present study is to investigate the impact of 12-weeks yoga based lifestyle intervention on psychological stress and quality of life in the parents of children affected with retinoblastoma. Method: Single arm prospective clinical trial conducted from October 2015 to October 2017 at the Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India...
April 2019: Annals of Neurosciences
Lindsey R Conroy, Susan Dougherty, Traci Kruer, Stephanie Metcalf, Pawel Lorkiewicz, Liqing He, Xinmin Yin, Xiang Zhang, Sengodagounder Arumugam, Lyndsay E A Young, Ramon C Sun, Brian F Clem
Dysregulated metabolism is a hallmark of cancer cells and is driven in part by specific genetic alterations in various oncogenes or tumor suppressors. The retinoblastoma protein (pRb) is a tumor suppressor that canonically regulates cell cycle progression; however, recent studies have highlighted a functional role for pRb in controlling cellular metabolism. Here, we report that loss of the gene encoding pRb ( Rb1 ) in a transgenic mutant Kras -driven model of lung cancer results in metabolic reprogramming. Our tracer studies using bolus dosing of [U-13 C]-glucose revealed an increase in glucose carbon incorporation into select glycolytic intermediates...
January 17, 2020: Cancers
Irene Jiménez, Marick Laé, Marie-Laure Tanguy, Alexia Savignoni, Marion Gauthier-Villars, Laurence Desjardins, Nathalie Cassoux, Rémi Dendale, Joseph Rodriguez, François Doz, Hervé J Brisse, Isabelle Aerts
BACKGROUND: The long-term survival of germline retinoblastoma patients is decreased due to the risk of second primary tumors (SPTs) that occur years after the diagnosis of retinoblastoma. This risk is related to genetic predisposition and other factors, such as the treatment of retinoblastoma by external beam radiotherapy (EBRT). PROCEDURE: We studied the incidence, risk factors, and prognosis of specific craniofacial SPTs developed within the margins of radiation field in a cohort of 209 patients with germline retinoblastoma treated with EBRT at our institution between 1977 and 2010...
January 6, 2020: Pediatric Blood & Cancer
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