Pearls and Forget-Me-Nots in the Management of Retinoblastoma
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Germline and Mosaic Mutations Causing Pituitary Tumours: Genetic and Molecular Aspects
240 2 Journal of S Pepe et al. Germline and mosaic 240:2 R21–R45 Endocrinology mutations in pituitary tumours REVIEW Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects Sara Pepe1,2, Márta Korbonits1 and Donato Iacovazzo1 1Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK 2Department of Medical Biotechnologies, University of Siena, Siena, Italy Correspondence should be addressed to M Korbonits: [email protected] Abstract While 95% of pituitary adenomas arise sporadically without a known inheritable Key Words predisposing mutation, in about 5% of the cases they can arise in a familial setting, either f genetics isolated (familial isolated pituitary adenoma or FIPA) or as part of a syndrome. FIPA is f pituitary caused, in 15–30% of all kindreds, by inactivating mutations in the AIP gene, encoding f pituitary adenoma a co-chaperone with a vast array of interacting partners and causing most commonly f mutation growth hormone excess. While the mechanisms linking AIP with pituitary tumorigenesis have not been fully understood, they are likely to involve several pathways, including the cAMP-dependent protein kinase A pathway via defective G inhibitory protein signalling or altered interaction with phosphodiesterases. The cAMP pathway is also affected by other conditions predisposing to pituitary tumours, including X-linked acrogigantism caused by duplications of the GPR101 gene, encoding an orphan G stimulatory protein- coupled receptor. Activating mosaic mutations in the GNAS gene, coding for the Gα stimulatory protein, cause McCune–Albright syndrome, while inactivating mutations in the regulatory type 1α subunit of protein kinase A represent the most frequent genetic cause of Carney complex, a syndromic condition with multi-organ manifestations also involving the pituitary gland. -
Germinoma of the Pineal Its Identity with Gcrminoma ( Scminoma") of the Testis
Germinoma of the Pineal Its Identity with Gcrminoma ( Scminoma") of the Testis Major Nathan B. Friedman, MC, AUS (From the Army Institute ot Pathology, \X/ashillgto~L D. C.) (Received for publication December 10, 1946) In 1944 Dorothy Russell (15) published the re- gcrminonmtous elements. Only 2 tulnors in this suits of a study of pineal tumors. She presented a group of 8 appeared to bc of neural origin; one, rational explanation for the well known similarity which had the pattern of a classic pinealoma, was in histologic appearance of "pinealomas" and "semi- TABLE l: DATA IN T\VENTY-THREt CASES OF PlNEAL nomas." She suggested that in'any "pincalomas" NEOPI.ASM ucre in truth teratoid tumors. The present report Case Age, Type of proposes to confirln h er.~obscrvations and to extend No. Sex years npoplasm s features her interpretations in accord with the teratologic CRovP 1 concepts gained through study of nearly 1,000 tu- 1 M 29 Neural mors of the testis at the Army Institute of Patho- 2 XI 22 Germinoma Extrapineal. Pitui- logy (6). tary involved. Dia- The files of the Institute contain pathologic ma- betes insipidus. Hypogonadism. terial from 23 patients with tumors of the pineal or ectopic "pinealomas." Fifteen tumors were submit- 3 1~i 17 Neural ted by military installations ~ (Group 1), and 8 were 4 1~I 18 Germinoma Pituitary involved. obtained from civilian sources e (Group 2). The Diabetes insipidus. _~I 21 essential data in all 23 cases arc listed in Table I. Puhnonary metas- tases. Radiosensi- Seven of the 15 tumors in group 1 were identical tMty. -
Metabolic Profiling of the Three Neural Derived Embryonal Pediatric Tumors
Metabolic profiling of the three neural derived embryonal pediatric tumors retinoblastoma, neuroblastoma and medulloblastoma, identifies distinct metabolic profiles Kohe, Sarah; Bennett, Christopher; Gill, Simrandip; Wilson, Martin; McConville, Carmel; Peet, Andrew DOI: 10.18632/oncotarget.24168 License: Creative Commons: Attribution (CC BY) Document Version Publisher's PDF, also known as Version of record Citation for published version (Harvard): Kohe, SE, Bennett, CD, Gill, SK, Wilson, M, McConville, C & Peet, AC 2018, 'Metabolic profiling of the three neural derived embryonal pediatric tumors retinoblastoma, neuroblastoma and medulloblastoma, identifies distinct metabolic profiles', OncoTarget, vol. 9, no. 13, pp. 11336-11351. https://doi.org/10.18632/oncotarget.24168 Link to publication on Research at Birmingham portal General rights Unless a licence is specified above, all rights (including copyright and moral rights) in this document are retained by the authors and/or the copyright holders. The express permission of the copyright holder must be obtained for any use of this material other than for purposes permitted by law. •Users may freely distribute the URL that is used to identify this publication. •Users may download and/or print one copy of the publication from the University of Birmingham research portal for the purpose of private study or non-commercial research. •User may use extracts from the document in line with the concept of ‘fair dealing’ under the Copyright, Designs and Patents Act 1988 (?) •Users may not further distribute the material nor use it for the purposes of commercial gain. Where a licence is displayed above, please note the terms and conditions of the licence govern your use of this document. -
Clinicopathological Characteristics of Papillary Thyroid Cancer in Children with Emphasis on Pubertal Status and Association with BRAFV600E Mutation
ORI GI NAL AR TIC LE DO I: 10.4274/jcrpe.3873 J Clin Res Pediatr Endocrinol 2017;9(3):185-193 Clinicopathological Characteristics of Papillary Thyroid Cancer in Children with Emphasis on Pubertal Status and Association with BRAFV600E Mutation Şükran Poyrazoğlu1, Rüveyde Bundak1, Firdevs Baş1, Gülçin Yeğen2, Yasemin Şanlı3, Feyza Darendeliler1 1İstanbul University İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey 2İstanbul University İstanbul Faculty of Medicine, Department of Pathology, İstanbul, Turkey 3İstanbul University İstanbul Faculty of Medicine, Department of Nuclear Medicine, İstanbul, Turkey What is already known on this topic? Papillary thyroid cancer (PTC) is more disseminated in prepubertal children. Recurrence rate was reported to be higher in the prepubertal group. What this study adds? BRAFV600E mutation is not correlated with a more extensive or aggressive disease in pediatric PTC patients. Frequency of BRAFV600E mutation is similar between prepubertal and pubertal children with PTC. Abstract Objective: Papillary thyroid cancer (PTC) may behave differently in prepubertal children as compared to pubertal children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate the clinicopathological characteristics of PTC patients with emphasis on the pubertal status and also to investigate the association of BRAFV600E mutation with disease characteristics. Methods: The medical records of 75 patients with PTC were reviewed retrospectively. BRAFV600E mutation status was available only in the medical records of 56 patients. Results: Mean age at diagnosis was 12.4±3.8 years. There was no difference in sex, initial signs, tumor histopathology, and pathological evidence of tumor aggressiveness between prepubertal and pubertal children. -
Fact Sheet on Pineoblastoma
Cancer Association of South Africa (CANSA) Fact Sheet on Pineoblastoma Introduction Pineoblastoma (also pinealoblastoma) is a malignant tumour of the pineal gland. Pineoblastoma may occur in patients with hereditary uni- or bilateral retinoblastoma. When retinoblastoma patients present with pineoblastoma this is characterised as ‘trilateral retinoblastoma’. [Picture Credit: Pineoblastoma] Pineal Tumours These tumours originate from normal cells in the pineal gland. The pineal gland is located in the centre of the brain and is involved in the secretion of specific hormones. [Picture Credit: Pineal Gland] Tumour types occurring in the pineal region may or may not involve the pineal gland. Tumours that may occur in this region but are not necessarily pineal tumours include: germinoma, non-germinoma (e.g., teratoma, endodermal sinus tumour, embryonal cell tumour, choriocarcinoma, and mixed tumours), meningioma, astrocytoma, ganglioglioma, and dermoid cysts. There are three types of pineal tumours: • Pineocytoma: Slow-growing, grade II tumour. • Pineoblastoma: More aggressive, grade IV, malignant tumour. A grade III intermediate form has also been described. • Mixed Pineal Tumour: Contains a combination of cell types. Researched and Authored by Prof Michael C Herbst [D Litt et Phil (Health Studies); D N Ed; M Art et Scien; B A Cur; Dip Occupational Health; Dip Genetic Counselling; Diagnostic Radiographer; Dip Audiometry and Noise Measurement; Medical Ethicist] Approved by Ms Elize Joubert, Chief Executive Officer [BA Social Work (cum laude); MA Social Work] April 2021 Page 1 Pineoblastoma Pineoblastoma is one of several different types of tumours that arise in the area of the pineal gland, requiring different therapies. The exact diagnosis is critical for choosing the correct therapy. -
Retinoblastoma
A Parent’s Guide to Understanding Retinoblastoma 1 Acknowledgements This book is dedicated to the thousands of children and families who have lived through retinoblastoma and to the physicians, nurses, technical staf and members of our retinoblastoma team in New York. David Abramson, MD We thank the individuals and foundations Chief Ophthalmic Oncology who have generously supported our research, teaching, and other eforts over the years. We especially thank: Charles A. Frueauf Foundation Rose M. Badgeley Charitable Trust Leo Rosner Foundation, Inc. Invest 4 Children Perry’s Promise Fund Jasmine H. Francis, MD The 7th District Association of Masonic Lodges Ophthalmic Oncologist in Manhattan Table of Contents What is Retinoblastoma? ..........................................................................................................3 Structure & Function of the Eye ...........................................................................................4 Signs & Symptoms .......................................................................................................................6 Genetics ..........................................................................................................................................7 Genetic Testing .............................................................................................................................8 Examination Schedule for Patients with a Family History ........................................ 10 Retinoblastoma Facts ................................................................................................................11 -
Statistical Analysis Plan
Cover Page for Statistical Analysis Plan Sponsor name: Novo Nordisk A/S NCT number NCT03061214 Sponsor trial ID: NN9535-4114 Official title of study: SUSTAINTM CHINA - Efficacy and safety of semaglutide once-weekly versus sitagliptin once-daily as add-on to metformin in subjects with type 2 diabetes Document date: 22 August 2019 Semaglutide s.c (Ozempic®) Date: 22 August 2019 Novo Nordisk Trial ID: NN9535-4114 Version: 1.0 CONFIDENTIAL Clinical Trial Report Status: Final Appendix 16.1.9 16.1.9 Documentation of statistical methods List of contents Statistical analysis plan...................................................................................................................... /LQN Statistical documentation................................................................................................................... /LQN Redacted VWDWLVWLFDODQDO\VLVSODQ Includes redaction of personal identifiable information only. Statistical Analysis Plan Date: 28 May 2019 Novo Nordisk Trial ID: NN9535-4114 Version: 1.0 CONFIDENTIAL UTN:U1111-1149-0432 Status: Final EudraCT No.:NA Page: 1 of 30 Statistical Analysis Plan Trial ID: NN9535-4114 Efficacy and safety of semaglutide once-weekly versus sitagliptin once-daily as add-on to metformin in subjects with type 2 diabetes Author Biostatistics Semaglutide s.c. This confidential document is the property of Novo Nordisk. No unpublished information contained herein may be disclosed without prior written approval from Novo Nordisk. Access to this document must be restricted to relevant parties.This -
Neurofibromatosis Type 1 and Type 2 Associated Tumours: Current Trends in Diagnosis and Management with a Focus on Novel Medical Therapies
Neurofibromatosis Type 1 and Type 2 Associated Tumours: Current trends in Diagnosis and Management with a focus on Novel Medical Therapies Simone Lisa Ardern-Holmes MBChB, MSc, FRACP A thesis submitted in fulfilment of the requirements for the degree of Doctor of Philosophy Faculty of Health Sciences, The University of Sydney February 2018 1 STATEMENT OF ORIGINALITY This is to certify that this submission is my own work and that, to the best of my knowledge, it contains no material previously published or written by another person, or material which to a substantial extent has been accepted for the award of any other degree or diploma of the university or other institute of higher learning, except where due acknowledgement has been made in the text. Simone L. Ardern-Holmes 2 SUMMARY Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are distinct single gene disorders, which share a predisposition to formation of benign nervous system tumours due to loss of tumour suppressor function. Since identification of the genes encoding NF1 and NF2 in the early 1990s, significant progress has been made in understanding the biological processes and molecular pathways underlying tumour formation. As a result, identifying safe and effective medical approaches to treating NF1 and NF2-associated tumours has become a focus of clinical research and patient care in recent years. This thesis presents a comprehensive discussion of the complications of NF1 and NF2 and approaches to treatment, with a focus on key tumours in each condition. The significant functional impact of these disorders in children and young adults is illustrated, demonstrating the need for coordinated care from experienced multidisciplinary teams. -
RETINOBLASTOMA Union for International Cancer Control 2014 Review of Cancer Medicines on the WHO List of Essential Medicines
RETINOBLASTOMA Union for International Cancer Control 2014 Review of Cancer Medicines on the WHO List of Essential Medicines RETINOBLASTOMA Executive Summary Retinoblastoma is the most frequent neoplasm of the eye in childhood, and represents 3% of all childhood malignancies. It is a cancer of the very young; two-thirds are diagnosed before 2 years of age, and 95% before 5 years. For these reasons, therapeutic approaches need to consider not only the cure of the disease but also the need to preserve vision with minimal long-term side effects. The average age-adjusted incidence rate of retinoblastoma in the United States and Europe is 2-5/106 children (approximately 1 in 14,000 – 18,000 live births). However, the incidence of retinoblastoma is not distributed equally around the world. It appears to be higher (6-10/106 children) in Africa, India, and among children of Native American descent in the North American continent. 1 Whether these geographical variations are due to ethnic or socioeconomic factors is not well known. However, the fact that even in industrialized countries an increased incidence of retinoblastoma is associated with poverty and low levels of maternal education, suggests a role for the environment. 2,3 Retinoblastoma presents in two distinct clinical forms: (1) A bilateral or multifocal, heritable form (25% of all cases), characterized by the presence of germ-line mutations of the RB1 gene; and (2) a unilateral or unifocal form (75% of all cases), 90% of which are non-hereditary. The most common presenting sign of retinoblastoma is leukocoria, and some patients may also present with strabismus. -
Jnumed.110.075226.Full.Pdf
Journal of Nuclear Medicine, published on September 16, 2010 as doi:10.2967/jnumed.110.075226 Phase I Trial of 90Y-DOTATOC Therapy in Children and Young Adults with Refractory Solid Tumors That Express Somatostatin Receptors Yusuf Menda1,2, M. Sue O’Dorisio2,3, Simon Kao1,2, Geetika Khanna4, Stacy Michael3, Mary Connolly5, John Babich6, Thomas O’Dorisio2,7, David Bushnell1,8, and Mark Madsen1 1Department of Radiology, Carver College of Medicine, University of Iowa, Iowa City, Iowa; 2Holden Comprehensive Cancer Center, Carver College of Medicine, University of Iowa, Iowa City, Iowa; 3Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa; 4Department of Radiology, Washington University School of Medicine, St. Louis, Missouri; 5Novartis Pharmaceuticals, Inc., Basel, Switzerland; 6Molecular Insight Pharmaceuticals, Inc., Cambridge, Massachusetts; 7Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa; and 8Iowa City VA Medical Center, Iowa City, Iowa The purpose of this study was to conduct a phase I trial of 90Y- DOTATOC to determine the dose-toxicity profile in children and Somatostatin receptor expression has been demonstrated young adults with somatostatin receptor–positive tumors. in several embryonal tumors in children, including in more Methods: A3· 3 design was used to determine the highest tolerable dose of 90Y-DOTATOC, with administered activities of than 90% of neuroblastoma and medulloblastomas and 1.11, 1.48, and 1.85 GBq/m2/cycle given in 3 cycles at 6-wk 35% of Ewing sarcomas (1,2). Similarly, bronchopulmo- intervals. An amino acid infusion was coadministered with the nary, intestinal, and pancreatic neuroendocrine tumors radiopharmaceutical for renal protection. -
Biopsia Estereotáxica De Pinealoblastoma. Hallazgos Citopatológicos En Dos Casos
Revista Médica del Hospital General de México Volumen Número Julio-Septiembre Volume 66 Number 3 July-September 2003 Artículo: Biopsia estereotáxica de pinealoblastoma. Hallazgos citopatológicos en dos casos Derechos reservados, Copyright © 2003: Sociedad Médica del Hospital General de México, AC Otras secciones de Others sections in este sitio: this web site: ☞ Índice de este número ☞ Contents of this number ☞ Más revistas ☞ More journals ☞ Búsqueda ☞ Search edigraphic.com Artículo original Caso clínico REVISTA MEDICA DEL HOSPITAL GENERAL DE MEXICO, S.S. Vol. 66, Núm. 3 Jul.-Sep. 2003 pp 147 - 151 Biopsia estereotáxica de pinealoblastoma. Hallazgos citopatológicos en dos casos Romero Guadarrama MB,* Velasco Campos F,* Jiménez Ponce F,** Cruz Ortiz CH,* Gaínza Lagunes S,*** Arroyo Valerio A,* Olvera Rabiela JE* RESUMEN Las neoplasias primarias de la glándula pineal o en su vecindad se clasifican en tumores del parénquima, intersti- cio o de origen germinal. La clasificación de la Organización Mundial de la Salud de tumores del sistema nervioso central divide a los tumores del parénquima de la glándula pineal en pineocitomas, pinealoblastomas y tumores mixtos (pinealocitomas-pinealoblastomas). Los pinealoblastomas son tumores raros (menos del 1% de las neo- plasias del sistema nervioso central); se presentan generalmente en niños y gente joven y su comportamiento clí- nico es agresivo. Gracias al advenimiento de técnicas modernas como la biopsia estereotáxica es posible el diagnóstico citopatológico correcto en tumores cuya situación anatómica no permite la intervención quirúrgica. Estos tumores representan entidades clinicopatológicas que histológicamente varían desde las bien diferenciadas (pineocitomas) a las menos diferenciadas (pinealoblastomas). Se presentan los hallazgos citológicos de dos ca- sos diagnosticados con biopsia estereotáxica. -
Clinical and Genetic Patterns Ofneurofibromatosis 1 and 2
662 BritishJournalofOphthalmology 1993; 77: 662-672 PERSPECTIVE Br J Ophthalmol: first published as 10.1136/bjo.77.10.662 on 1 October 1993. Downloaded from Clinical and genetic patterns of neurofibromatosis 1 and 2 Nicola K Ragge General introduction to the neurofibromatoses Neurofibromatosis type 1 The diseases traditionally known as neurofibromatosis have now been formally separated into two types: neurofibromato- CLINICAL ASPECTS sis type 1 or NFl (the type described by von Recklinghausen) Neurofibromatosis type 1 (NFI) is the commonest form of and neurofibromatosis type 2 or NF2 (a much rarer form).' It neurofibromatosis and has a frequency of about 1 in 3000 to is now recognised that although they have overlapping 1 in 3500.192° Although the gene is almost 100% penetrant, features, including an inherited propensity to neurofibromas the disease itselfhas extremely variable expressivity.20 About and tumours of the central nervous system, they are indeed 50% ofindex cases and 30% ofall NFl cases are considered to separate diseases and map to different chromosomes - 17 for be new mutations. The high mutation rate may be due in part NFl and 22 for NF2. Furthermore, developmental abnor- to the large size of the gene and its transcript, or possibly to malities such as hamartomas occur in both types of neuro- the presence of sequences within the gene highly susceptible fibromatosis, illustrating a need to define the role of the to mutation. normal NF genes in development. There may also be further forms of neurofibromatosis, including NF3, NF4, multiple meningiomatosis, and spinal Clinicalfeatures schwannomatosis, that do not fit precisely into current Particular clinical features are critical for establishing the diagnostic classifications.