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Wt1) – an Effector in Leukemogenesis?
WILMS’ TUMOUR GENE 1 PROTEIN (WT1) – AN EFFECTOR IN LEUKEMOGENESIS? Vidovic, Karina 2010 Link to publication Citation for published version (APA): Vidovic, K. (2010). WILMS’ TUMOUR GENE 1 PROTEIN (WT1) – AN EFFECTOR IN LEUKEMOGENESIS?. Lund University: Faculty of Medicine. Total number of authors: 1 General rights Unless other specific re-use rights are stated the following general rights apply: Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights. • Users may download and print one copy of any publication from the public portal for the purpose of private study or research. • You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal Read more about Creative commons licenses: https://creativecommons.org/licenses/ Take down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. LUND UNIVERSITY PO Box 117 221 00 Lund +46 46-222 00 00 Download date: 07. Oct. 2021 Division of Hematology and Transfusion Medicine Lund University, Lund, Sweden WILMS’ TUMOUR GENE 1 PROTEIN (WT1) – AN EFFECTOR IN LEUKEMOGENESIS? Karina Vidovic Thesis 2010 Contact adress Karina Vidovic Division of Hematology and Transfusion Medicine BMC, C14 Klinikgatan 28 SE- 221 84 Lund Sweden Phone +46 46 222 07 30 e-mail: [email protected] ISBN 978-91-86443-99-3 ! Karina Vidovic Printed by Media-Tryck, Lund, Sweden 2 ”The journey of a thousand miles begins with one step” Lao Tzu (Chinese taoist), 600-531 BC 3 4 LIST OF PAPERS This thesis is based on the following papers, referred to in the text by their Roman numerals I. -
Primary Hyperparathyroidism and Celiac Disease: a Population-Based Cohort Study
ORIGINAL ARTICLE Endocrine Care Primary Hyperparathyroidism and Celiac Disease: A Population-Based Cohort Study Jonas F. Ludvigsson, Olle Ka¨ mpe, Benjamin Lebwohl, Peter H. R. Green, Shonni J. Silverberg, and Anders Ekbom Department of Pediatrics (J.F.L.), O¨ rebro University Hospital, 701 85 O¨ rebro, Sweden; Clinical Epidemiology Unit (J.F.L., A.E.), Department of Medicine, Karolinska Institutet, 171 76 Stockholm, Sweden; Department of Medical Sciences (O.K.), Uppsala University, University Hospital, 751 85 Uppsala, Sweden; and Celiac Disease Center (B.L., P.H.R.G.), and Division of Endocrinology, Department of Medicine (S.J.S.), Columbia University College of Physicians and Surgeons, New York, New York 10032 Context: Celiac disease (CD) has been linked to several endocrine disorders, including type 1 dia- betes and thyroid disorders, but little is known regarding its association to primary hyperpara- thyroidism (PHPT). Objective: The aim of the study was to examine the risk of PHPT in patients with CD. Design and Setting: We conducted a two-group exposure-matched nonconcurrent cohort study in Sweden. A Cox regression model estimated hazard ratios (HR) for PHPT. Participants: We identified 17,121 adult patients with CD who were diagnosed through biopsy reports (Marsh 3, villous atrophy) from all 28 pathology departments in Sweden. Biopsies were performed in 1969–2008, and biopsy report data were collected in 2006–2008. Statistics Sweden then identified 85,166 reference individuals matched with the CD patients for age, sex, calendar period, and county. Main Outcome Measure: PHPT was measured according to the Swedish national registers on inpatient care, outpatient care, day surgery, and cancer. -
Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome
Hindawi Publishing Corporation Surgery Research and Practice Volume 2014, Article ID 731481, 4 pages http://dx.doi.org/10.1155/2014/731481 Case Report Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome María Posada-González,1 Joaquín Gómez-Ramírez,2 Manuel Luque-Ramírez,3 Mercedes Guijarro,4 Elena Martín-Pérez,1 Ana Rodríguez-Sánchez,1 Iñigo García-Sanz,1 and Eduardo Larrañaga1 1 Department of General and Gastrointestinal Surgery, La Princesa University Hospital, 62 Diego de Leon Street, 28006 Madrid, Spain 2 Department of General and Gastrointestinal Surgery, Fundacion´ Jimenez´ D´ıaz Hospital, 2 Reyes Catolicos Avenue, 28040 Madrid, Spain 3 Department of Endocrinology and Clinical Nutrition, Ramon´ y Cajal University Hospital, Colmenar Viejo Road 9.100 Km, 28034 Madrid, Spain 4 Department of Pathology, La Princesa University Hospital, 62 Diego de Leon Street, 28006 Madrid, Spain Correspondence should be addressed to Mar´ıa Posada-Gonzalez;´ [email protected] Received 28 August 2013; Accepted 26 September 2013; Published 20 February 2014 AcademicEditors:C.Foroulis,G.Lal,andF.Turegano´ Copyright © 2014 Mar´ıa Posada-Gonzalez´ et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Parathyroid carcinoma is a very rare malignancy. It has been associated with hyperparathyroidism-jaw tumour syndrome, familial isolated primary hyperparathyroidism, and multiple endocrine neoplasia type 1 (MEN-1) and 2A (MEN-2A) syndromes. We report a 54-year-old man with a MEN-2A which presents with a nonfunctional metastatic parathyroid carcinoma and a pheochromocytoma in the absence of medullary thyroid carcinoma. -
MEN1 Gene Mutation with Parathyroid Carcinoma: First Report of a Familial Case
6 8 L Cinque, A Sparaneo et al. MEN1familial familialcase and caseparathyroid andcarcinoma 886–8916:8 8866–891:886 Research parathyroid carcinoma Open Access MEN1 gene mutation with parathyroid carcinoma: first report of a familial case Luigia Cinque1,*, Angelo Sparaneo2,*, Antonio S Salcuni3, Danilo de Martino4, Claudia Battista3, Francesco Logoluso5, Orazio Palumbo1, Roberto Cocchi6, Evaristo Maiello7, Paolo Graziano8, Geoffrey N Hendy9, David E C Cole10, Alfredo Scillitani3 and Vito Guarnieri1 1Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 2Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 3Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 4Thoracic Surgery, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 5Department of Emergency and Organ Transplantation, Unit of Endocrinology, University Medical School of Bari ‘Aldo Moro’, Bari, Italy 6Maxillofacial Surgery, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 7Oncoematology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 8Pathology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 9Departments of Medicine, Physiology and Human Genetics, McGill University and Metabolic Disorders and Correspondence Complications, McGill University Health Centre Research Institute, Montreal, Quebec, Canada should be addressed 10Departments -
Synchronous Primary Hyperparathyroidism and Papillary Thyroid Carcinoma in a 50-Year-Old Female, Who Initially Presented with Uncontrolled Hypertension
Open Access http://www.jparathyroid.com Journal of Journal of Parathyroid Disease 2014,2(2),69–70 Epidemiology and Prevention Synchronous primary hyperparathyroidism and papillary thyroid carcinoma in a 50-year-old female, who initially presented with uncontrolled hypertension Seyed Seifollah Beladi Mousavi1, Hamid Nasri2*, Saeed Behradmanesh3 hough, the association between parathyroid and Implication for health policy/practice/research/ thyroid diseases is not uncommon, however medical education concurrent presence of parathyroid adenoma An association between parathyroid adenoma Tand thyroid cancer is rare (1,2). The association between and thyroid cancer is rare. Awareness of this concurrent thyroid and parathyroid disease was firstly situation will enable clinicians to consider for explained by Kissin et al. in 1947 (2). Awareness of possible thyroid pathology in patients with primary this situation will enable clinicians to consider for hyperparathyroidism. Both of these endocrine diseases possible thyroid pathology in patients with primary could then be managed with a single surgery involving hyperparathyroidism. While thyroid follicular cells and concomitant resection of the thyroid and involved parathyroid cells are embryologically different. It is evident parathyroid glands. that presence of parathyroid adenoma leading to primary hyperparathyroidism and coexistent of thyroid papillary cancer is rare. Both of these endocrine diseases could then coincidence of papillary thyroid carcinoma. After surgery, be managed with a single surgery involving concomitant serum parathormone and calcium returned to their normal resection of the thyroid and involved parathyroid glands. values and patient was referred to an endocrinologist for A 50-year-old female, referred to the nephrology clinic for continuing the treatment of papillary carcinoma. -
Parathyroid Carcinoma Presenting As an Acute Pancreatitis
International Journal of Radiology & Radiation Therapy Case Report Open Access Parathyroid carcinoma presenting as an acute pancreatitis Abstract Volume 3 Issue 3 - 2017 Parathyroid carcinoma is the cause of only 1% of hyperparathyroidism cases. The Enrique Cadena,1,2,3 Alfredo Romero-Rojas1,3 incidence of acute pancreatitis in patients with hyperparathyroidism was reported to 1Department of Head and Neck Surgery and Pathology, be only 1.5%. The occurrence of pancreatitis in patients with parathyroid carcinoma National Cancer Institute, Colombia is unusual, ranging from 0% to 15%. Here, we report a very rare case of parathyroid 2Department of Surgery, National University of Colombia, carcinoma presenting as an acute pancreatitis in a 45years old woman, who was Colombia suspected for hypercalcemia and higher levels of intact parathyroid hormone. The 3Department of Head and Neck Surgery and Pathology, Marly parathyroid carcinoma was verified with ultrasound, CT Scan, and single-photon Clinic, Colombia emission computed tomography. The pathological anatomy report showed a minimally invasive parathyroid carcinoma. Following surgery, the patient was free after almost Correspondence: Enrique Cadena, Department of Head and a 4years follow up. Neck Surgery and Pathology, National Cancer Institute, Bogotá, 1st Street # 9-85, Colombia, Tel 5713341111, 5713341478, Keywords: acute necrotizing pancreatitis, hypercalcemia, primary Email [email protected] hyperparathyroidism, parathyroid carcinoma Received: May 29, 2017 | Published: June 27, 2017 Abbreviations: HPT, hyperparathyroidism; PHPT, primary (2.5mg/dl) levels. Kidney and liver function tests, albumin and hyperparathyroidism; SPECT, single-photon emission computed to- triglyceride levels were all within normal limits. The patient was mography; CT, computed tomography; iPTH, intact parathyroid hor- treated initially with intravenous fluids and H2 blockers, and no oral mone. -
(NF1) Defects Are Common in Human Ovarian Serous Carcinomas and Co-Occur with TP53 Mutations
Volume 10 Number 12 December 2008 pp. 1362–1372 1362 www.neoplasia.com Neurofibromin 1 (NF1) Defects Navneet Sangha*, Rong Wu*, Rork Kuick†, Scott Powers‡, David Mu§, Diane Fiander*, Are Common in Human Ovarian Kit Yuen*, Hidetaka Katabuchi¶, Hironori Tashiro¶, Serous Carcinomas and Co-occur Eric R. Fearon*,†,# and Kathleen R. Cho*,†,# 1,2 with TP53 Mutations *Department of Pathology, The University of Michigan Medical School, Ann Arbor, MI 48109, USA; †The Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, MI 48109, USA; ‡Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA; §Department of Pathology, Penn State University College of Medicine, Hershey, PA 17033, USA; ¶Department of Gynecology, Kumamoto University, Kumamoto, 860-8556, Japan; #Department of Internal Medicine, The University of Michigan Medical School, Ann Arbor, MI 48109, USA Abstract Ovarian serous carcinoma (OSC) is the most common and lethal histologic type of ovarian epithelial malignancy. Mutations of TP53 and dysfunction of the Brca1 and/or Brca2 tumor-suppressor proteins have been implicated in the molecular pathogenesis of a large fraction of OSCs, but frequent somatic mutations in other well-established tumor-suppressor genes have not been identified. Using a genome-wide screen of DNA copy number alterations in 36 primary OSCs, we identified two tumors with apparent homozygous deletions of the NF1 gene. Subsequently, 18 ovarian carcinoma–derived cell lines and 41 primary OSCs were evaluated for NF1 alterations. Markedly re- duced or absent expression of Nf1 protein was observed in 6 of the 18 cell lines, and using the protein truncation test and sequencing of cDNA and genomic DNA, NF1 mutations resulting in deletion of exons and/or aberrant splicing of NF1 transcripts were detected in 5 of the 6 cell lines with loss of NF1 expression. -
Biomarker Testing in Non- Small Cell Lung Cancer (NSCLC)
The biopharma business of Merck KGaA, Darmstadt, Germany operates as EMD Serono in the U.S. and Canada. Biomarker testing in non- small cell lung cancer (NSCLC) Copyright © 2020 EMD Serono, Inc. All rights reserved. US/TEP/1119/0018(1) Lung cancer in the US: Incidence, mortality, and survival Lung cancer is the second most common cancer diagnosed annually and the leading cause of mortality in the US.2 228,820 20.5% 57% Estimated newly 5-year Advanced or 1 survival rate1 metastatic at diagnosed cases in 2020 diagnosis1 5.8% 5-year relative 80-85% 2 135,720 survival with NSCLC distant disease1 Estimated deaths in 20201 2 NSCLC, non-small cell lung cancer; US, United States. 1. National Institutes of Health (NIH), National Cancer Institute. Cancer Stat Facts: Lung and Bronchus Cancer website. www.seer.cancer.gov/statfacts/html/lungb.html. Accessed May 20, 2020. 2. American Cancer Society. What is Lung Cancer? website. https://www.cancer.org/cancer/non-small-cell-lung-cancer/about/what-is-non-small-cell-lung-cancer.html. Accessed May 20, 2020. NSCLC is both histologically and genetically diverse 1-3 NSCLC distribution by histology Prevalence of genetic alterations in NSCLC4 PTEN 10% DDR2 3% OTHER 25% PIK3CA 12% LARGE CELL CARCINOMA 10% FGFR1 20% SQUAMOUS CELL CARCINOMA 25% Oncogenic drivers in adenocarcinoma Other or ADENOCARCINOMA HER2 1.9% 40% KRAS 25.5% wild type RET 0.7% 55% NTRK1 1.7% ROS1 1.7% Oncogenic drivers in 0% 20% 40% 60% RIT1 2.2% squamous cell carcinoma Adenocarcinoma DDR2 2.9% Squamous cell carcinoma NRG1 3.2% Large cell carcinoma -
Spontaneous Healing of Osteitis Fibrosa Cystica in Primary Hyperparathyroidism
754 Gibbs, Millar, Smith Postgrad Med J: first published as 10.1136/pgmj.72.854.754 on 1 December 1996. Downloaded from Spontaneous healing of osteitis fibrosa cystica in primary hyperparathyroidism CJ Gibbs, JGB Millar, J Smith Summar biochemistry showed hypercalcaemia, hypo- A 24-year-old man with primary hyper- phosphataemia, elevated parathyroid hormone, parathyroidism and osteitis fibrosa cystica but normal alkaline phosphatase (table). developed acute hypocalcaemia. Sponta- Radiographs showed improvement in the neous healing of his bone disease was mandibular translucency and resolution of the confirmed radiographically and by correc- phalangeal tuft resorption and subperiosteal tion of the serum alkaline phosphatase. erosion (figures 1B, 2B). Thallium scan of the Hypercalcaemia associated with a raised neck showed no evidence of parathyroid serum parathyroid hormone recurred 90 activity and neck exploration failed to reveal weeks after the initial presentation. Dur- any parathyroid tissue. Venous sampling ing the fourth neck exploration a para- showed no step-up in parathyroid hormone thyroid adenoma was removed, resulting concentration in the neck or chest. Selective in resolution of his condition. Haemor- angiography suggested a parathyroid adenoma rhagic infarction of an adenoma was the behind the right clavicle but two further most likely cause of the acute hypocalcae- explorations revealed only one normal para- mic episode. thyroid gland. Computed tomography (CT) of the neck showed a low attenuation, non- Keywords: primary hyperparathyroidism, osteitis enhancing mass in the right lower pole of the fibrosa cystica, hypercalcaemia thyroid gland. Ultrasonography confirmed a hypo-echoic mass 1.5 x 0.5 cm in the right lobe of the thyroid. -
Osteomalacia and Hyperparathyroid Bone Disease in Patients with Nephrotic Syndrome
Osteomalacia and Hyperparathyroid Bone Disease in Patients with Nephrotic Syndrome Hartmut H. Malluche, … , David A. Goldstein, Shaul G. Massry J Clin Invest. 1979;63(3):494-500. https://doi.org/10.1172/JCI109327. Research Article Patients with nephrotic syndrome have low blood levels of 25 hydroxyvitamin D (25-OH-D) most probably because of losses in urine, and a vitamin D-deficient state may ensue. The biological consequences of this phenomenon on target organs of vitamin D are not known. This study evaluates one of these target organs, the bone. Because renal failure is associated with bone disease, we studied six patients with nephrotic syndrome and normal renal function. The glomerular filtration rate was 113±2.1 (SE) ml/min; serum albumin, 2.3±27 g/dl; and proteinuria ranged between 3.5 and 14.7 g/24 h. Blood levels of 25-OH-D, total and ionized calcium and carboxy-terminal fragment of immunoreactive parathyroid hormone were measured, and morphometric analysis of bone histology was made in iliac crest biopsies obtained after double tetracycline labeling. Blood 25-OH-D was low in all patients (3.2-5.1 ng/ml; normal, 21.8±2.3 ng/ml). Blood levels of both total (8.1±0.12 mg/dl) and ionized (3.8±0.21 mg/dl) calcium were lower than normal and three patients had true hypocalcemia. Blood immuno-reactive parathyroid hormone levels were elevated in all. Volumetric density of osteoid was significantly increased in three out of six patients and the fraction of mineralizing osteoid seams was decreased in all. -
Identification of Transcriptional Mechanisms Downstream of Nf1 Gene Defeciency in Malignant Peripheral Nerve Sheath Tumors Daochun Sun Wayne State University
Wayne State University DigitalCommons@WayneState Wayne State University Dissertations 1-1-2012 Identification of transcriptional mechanisms downstream of nf1 gene defeciency in malignant peripheral nerve sheath tumors Daochun Sun Wayne State University, Follow this and additional works at: http://digitalcommons.wayne.edu/oa_dissertations Recommended Citation Sun, Daochun, "Identification of transcriptional mechanisms downstream of nf1 gene defeciency in malignant peripheral nerve sheath tumors" (2012). Wayne State University Dissertations. Paper 558. This Open Access Dissertation is brought to you for free and open access by DigitalCommons@WayneState. It has been accepted for inclusion in Wayne State University Dissertations by an authorized administrator of DigitalCommons@WayneState. IDENTIFICATION OF TRANSCRIPTIONAL MECHANISMS DOWNSTREAM OF NF1 GENE DEFECIENCY IN MALIGNANT PERIPHERAL NERVE SHEATH TUMORS by DAOCHUN SUN DISSERTATION Submitted to the Graduate School of Wayne State University, Detroit, Michigan in partial fulfillment of the requirements for the degree of DOCTOR OF PHILOSOPHY 2012 MAJOR: MOLECULAR BIOLOGY AND GENETICS Approved by: _______________________________________ Advisor Date _______________________________________ _______________________________________ _______________________________________ © COPYRIGHT BY DAOCHUN SUN 2012 All Rights Reserved DEDICATION This work is dedicated to my parents and my wife Ze Zheng for their continuous support and understanding during the years of my education. I could not achieve my goal without them. ii ACKNOWLEDGMENTS I would like to express tremendous appreciation to my mentor, Dr. Michael Tainsky. His guidance and encouragement throughout this project made this dissertation come true. I would also like to thank my committee members, Dr. Raymond Mattingly and Dr. John Reiners Jr. for their sustained attention to this project during the monthly NF1 group meetings and committee meetings, Dr. -
View Its Management Considering the Recent Relevant Literature
Ferraro et al. BMC Endocrine Disorders 2019, 19(Suppl 1):46 https://doi.org/10.1186/s12902-019-0368-1 RESEARCH Open Access Current concepts in parathyroid carcinoma: a single Centre experience Valentina Ferraro1†, Lucia Ilaria Sgaramella1†, Giovanna Di Meo1, Francesco Paolo Prete2, Francesco Logoluso2, Francesco Minerva1, Marica Noviello1, Giuseppina Renzulli3, Angela Gurrado1 and Mario Testini1* Abstract Background: Parathyroid carcinoma is a rare neoplasm that may present sporadically or in the context of a genetic syndrome. Diagnosis and management are challenging due to the lack of clinical and pathological features that may reliably distinguish malignant from benign disease. Methods: From January 2013 to December 2017, from 358 consecutive patients affected by parathyroid diseases, 3 patients with parathyroid carcinoma were treated at our academic Department of General Surgery. We present our experience as illustrative of the different features of clinical presentation of parathyroid carcinoma and review its management considering the recent relevant literature. Results: Case 1: A 62-year-old man was hospitalized for left-sided palpable neck mass, hypercalcemia and elevated PTH. US-guided FNA was suspect for parathyroid carcinoma. A large cystic mass was excised in bloc with total thyroidectomy and central neck dissection. Genetic studies framed a pathologically confirmed parathyroid carcinoma within MEN1 syndrome. Case 2: A 48-year-old woman with hypothyroidism had total thyroidectomy performed for a suspect for right follicular thyroid lesion. Pathology revealed parathyroid carcinoma. Case 3: A47 year-old man was admitted for hypercalcaemic crisis and renal failure in the context of PHPT. A lesion suggestive on US and MIBI scan for parathyroid adenoma in the right lower position was removed by mini-invasive approach.