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Pleuropulmonary And Blastoma

Andrea Ferrari, Ines B Brecht, Gemma Gatta, Dominik T Schneider, Daniel Orbach, Giovanni Cecchetto, Jan Godzinski, Yves Reguerre, Ewa Bien, Teresa Stachowicz-Stencel, Michael Ost, Chiara Magni, Pamela Kearns, Gilles Vassal, Maura Massimino, Andrea Biondi, Gianni Bisogno, Annalisa Trama
Although all tumours are rare in childhood, there are some particularly rare paediatric cancers which have not benefited from advances made by the international paediatric oncology network. To establish a shared definition and produce a list of these entities, the European Union Joint Action on Rare Cancers (JARC) promoted a consensus effort. The definition was based on the incidence rates estimated using the information network on rare cancers (RARECAREnet) database, pooling data from 94 population-based cancer registries and 27 countries...
February 19, 2019: European Journal of Cancer
Douglas R Stewart, Ana F Best, Gretchen M Williams, Laura A Harney, Ann G Carr, Anne K Harris, Christian P Kratz, Louis P Dehner, Yoav H Messinger, Philip S Rosenberg, D Ashley Hill, Kris Ann P Schultz
PURPOSE: DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder caused by pathogenic germline variants in DICER1. We sought to quantify risk, hazard rates, and the probability of neoplasm incidence accounting for competing risks ("cumulative incidence") of neoplasms (benign and malignant) and standardized incidence ratios for malignant tumors in individuals with DICER1 pathogenic variation. PATIENTS AND METHODS: We combined data from three large cohorts of patients who carry germline pathogenic variation in DICER1...
February 4, 2019: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Cécile Guenot, John Kingdom, Maud De Rham, Maria Osterheld, Sarah Keating, Yvan Vial, Tim Van Mieghem, Nicole Jastrow, Luigi Raio, Marialuigia Spinelli, Letizia Di Meglio, Gihad Chalouhi, David Baud
BACKGROUND: Placental mesenchymal dysplasia (PMD) is a rare vascular and connective placental anomaly, which is often associated with severe fetal and/or maternal complications. The diversity of presentation of PMD challenges diagnosis and effective pregnancy management. OBJECTIVE: We aimed to review cases presenting at 7 tertiary centers worldwide over the last decade and to study the occurrence of obstetric and neonatal complications. STUDY DESIGN: Pathology databases from 7 tertiary hospitals were screened for cases of PMD (between 2007-2017)...
January 17, 2019: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Adam C Adler
Lung isolation for pediatric thoracic surgery is especially challenging in a patient with chronic lung infection and need to protect the nonoperative lobes from the spread of infection during anesthesia and surgery. Typically, for pediatric thoracic surgery, a mainstem intubation or placement of an intraluminal bronchial blocker is sufficient for lung isolation. The patient whose case is reported here suffered from a pleuropulmonary blastoma compressing the left lower lobe bronchus and resultant chronic infection involving the left lower lobe...
January 25, 2019: A&A practice
Yoshiko Nakano, Sandra Pisa Gatell, Kris Ann P Schultz, Thais Murciano Carrillo, Hiroyuki Fujisaki, Keiko Okada, Masaki Horiike, Tetsuro Nakamura, Yusuke Watanabe, Yasuhiro Matsusaka, Hiroaki Sakamoto, Hiroko Fukushima, Takeshi Inoue, Gretchen M Williams, D Ashley Hill, Junichi Hara
Pleuropulmonary blastoma (PPB) is a rare pediatric tumor. The central nervous system (CNS) is the most common site of extrathoracic metastasis. The prognosis of PPB patients with CNS metastases is dismal: most patients die within one year after recurrence. Here, we describe two patients diagnosed with PPB who developed intracranial recurrences shortly after the end of their initial treatment and were successfully treated by gross total resection, radiotherapy, and chemotherapy. Both patients are in complete remission four and three years after recurrence...
January 24, 2019: Pediatric Blood & Cancer
Jung Kim, Kris Ann P Schultz, Dana Ashley Hill, Douglas R Stewart
BACKGROUND: The DICER1 syndrome is an autosomal dominant tumor-predisposition disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer. Somatic missense variation in "hotspot" codons in the RNaseIIIb domain (E1705, D1709, G1809, D1810, E1813) is observed in DICER1-associated tumors. Previously, we found the prevalence of germline pathogenic DICER1 variation in the general population is 1:10,600. In this study, we investigated the prevalence of pathogenic DICER1 germline variation in The Cancer Genome Atlas (TCGA; 32 adult cancer types; 9,173 exomes) and the Therapeutically Applicable Research to Generate Effective Treatment (TARGET; two pediatric cancer types; 175 exomes) cohorts...
January 22, 2019: Molecular Genetics & Genomic Medicine
Bruce D Leckey, John M Carney, Jessica M Sun, Elizabeth N Pavlisko
Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies associated with DICER1 variants. We present two cases, a 2-year-old girl with upper respiratory tract symptoms as well as a 6-month-old girl sibling undergoing screening due to family history of malignancy. Imaging of the 2-year-old girl revealed a large mass filling the right hemithorax which was determined to be a type II PPB after pathological examination. Imaging of the 6-month-old sibling demonstrated a small cystic lesion in the posterior basal segment of the right lower lobe which was determined to be a type 1r PPB after pathological examination...
January 20, 2019: BMJ Case Reports
Jennifer A Lewis, William J Petty, James Urbanic, Eric D Bernstein, Tamjeed Ahmed
Pulmonary blastoma is a rare lung cancer classified into three subtypes: classic biphasic pulmonary blastoma (CBPB), well-differentiated fetal adenocarcinoma (WDFA), and pleuropulmonary blastoma (PPB) of childhood. Compared to the other subtypes, CPPB is an aggressive tumor with an overall five-year survival of 16% across all stages. We present two cases of biopsy-proven metastatic CBPB, who have been disease-free for over 10 years since treatment completion. Both patients were treated with surgery to the primary tumor followed by an adjuvant cisplatin-based chemotherapy for four cycles and thoracic radiation...
November 13, 2018: Curēus
Akifumi Nozawa, Michio Ozeki, Riko Kawasaki, Mina Nakama, Hisashi Iwata, Toshiyuki Yamamoto, Toshiyuki Fukao
Pleuropulmonary blastoma (PPB) is a rare, progressive, and aggressive malignant intrathoracic tumor observed during childhood. Mutations in the DICER1 gene have been considered a major etiologic factor of PPB and cause a variety of tumor types in children and young adults. We present a 3-year-old boy with type II PPB. Multimodal treatment consisting of surgery and neoadjuvant chemotherapy was effective. DICER1 mutations were examined by Sanger sequencing, microarray comparative genomic hybridization, and microsatellite markers...
December 21, 2018: Journal of Pediatric Hematology/oncology
Moupali Ghosh, Nelofar Islam, Arindam Ghosh, Priyanka Maity Chaudhuri, Koushik Saha, Uttara Chatterjee
BACKGROUND: Pleuropulmonary blastoma (PPB) is a childhood malignancy known to be associated with congenital pulmonary airway malformation (CPAM). CASE REPORT: An 18 months boy presented with respiratory distress. Computed tomography (CT) scans revealed a large right-sided lung mass. Fine needle aspiration cytology (FNAC) showed sheets and clusters of small round to oval cells with scanty cytoplasm. The possibility of PPB was suggested. Trucut biopsy from the mass confirmed the diagnosis of PPB, of at least type II...
October 25, 2018: Fetal and Pediatric Pathology
Olivier Abbo, Kalitha Pinnagoda, Laurent Brouchet, Bertrand Leobon, Frédérique Savagner, Isabelle Oliver, Philippe Galinier, Marie-Pierre Castex, Marlène Pasquet
BACKGROUND: Pleuroblastoma (PPB) is a rare pediatric tumor which, in 30% of cases, is associated with cystic nephroma. It has been recently linked to the DICER1 mutation as part of a predisposition syndrome for various tumors. However, if DICER 1 anomalies have been reported in patients with Wilms tumor (WT), to date, no cases of PPB, WT, and DICER1 mutations have been reported in the same patient. CASE PRESENTATION: We report the case of a 3-year-old patient, initially managed for metastatic WT...
August 10, 2018: World Journal of Surgical Oncology
Rodrigo A Mon, Kevin N Johnson, Maria Ladino-Torres, Amer Heider, George B Mychaliska, Marjorie C Treadwell, Shaun M Kunisaki
BACKGROUND: Although fetal ultrasound, fetal MRI and postnatal CT are now widely used in the evaluation of congenital lung malformations (CLM), their diagnostic accuracy remains undefined. OBJECTIVE: To correlate prenatal and postnatal imaging studies with pathological data after CLM resection. DESIGN: Retrospective, descriptive case series study. SETTING: A North American tertiary care centre. PATIENTS: One hundred and three consecutive lung resections for a suspected CLM between 1 January 2005 and 31 December 2015...
July 26, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
Rie Nishikata, Naho Kato, Miwako Suto, Mami Rinno, Naohito Kuroda, Yuko Hashimoto
No abstract text is available yet for this article.
June 19, 2018: Legal Medicine
Mays Altaraihi, Jens Pedersen, Maria Rossing, Anne-Marie Gedes, Karin Wadt
Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband has two children with the mutation but with no manifestations. Given this circumstance, we discuss the prospects of an implementation of screening programmes for children with predisposed cancerous syndromes...
June 18, 2018: Ugeskrift for Laeger
Robert J Vandewalle, Joseph C Easton, R Cartland Burns, Brian W Gray, Frederick J Rescorla
PURPOSE:  The purpose of this study is to describe a single institution's 11-year experience treating children with congenital pulmonary airway malformations (CPAMs) and pleuropulmonary blastoma (PPB). METHODS:  An institutional database was sampled for all patients aged 0 to 18 years from January 1, 2005, to December 31, 2015. Patients with a pathologic diagnosis of CPAM or PPB during this period were reviewed. RESULTS:  A total of 51 patients with a pathologic diagnosis of CPAM ( n  = 45; 88...
June 19, 2018: European Journal of Pediatric Surgery
Markus Eckstein, Abbas Agaimy, Joachim Woenckhaus, Alexander Winter, Iris Bittmann, Joerg Janzen, Simone Bertz, Florian Haller, Arndt Hartmann
Fibroepithelial polyps of the urinary tract are rare lesions. They occur mainly in the upper urinary tract of children. A high disease prevalence has been reported in families with pleuropulmonary blastoma. Here we present a case of a 46-year-old woman who presented with a giant botryoid fibroepithelial polyp of the urinary bladder. Histologically, the lesion showed prominent botryoid features with an embryonal rhabdomyosarcoma-like cambium layer lacking nuclear or cellular atypia. Immunohistochemical analysis ruled out rhabdomyoblastic differentiation...
June 5, 2018: Human Pathology
Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M Tirado, Jaume Mora, Javier Alonso, Xavier Garcia Del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T W Jones, Andreas von Deimling
Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%)...
August 2018: Acta Neuropathologica
Josefina Sáez B, Juan Carlos Pattillo S, José Fernando Vuletin S
INTRODUCTION: Pleuropulmonary blastema (PPB) is the most common primary malignancy of the lungs in childhood. It occurs more frequently in children between one and four years of age, and respiratory symptoms are a common manifestation. Three types have been defined (type I, II and III), which are related to survival and prognosis. OBJECTIVE: To report the first case of a patient with a PPB who presented with a chest wall deformity. CASE REPORT: One year old male patient who had a chest wall deformity at ten months of age...
April 2018: Revista Chilena de Pediatría
Jenny C Salazar, Manuel Pardo, Víctor M Mora-Bautista
Pleuropulmonary Blastoma corresponds to a malignant primary lung disorder, exclusive of pediatric age, infrequent and of aggressive characteristics. Age on diagnosis is 1 month-12 years. Rates per sex are equal. It can be found inside pleura or lungs. Respiratory distress associated or not with pneumothorax, chest pain and fever are classical clinical signs. These symptoms could be misdiagnosed as pneumonia. Radiologically, a large mass near the pleura at the base of the right lung without air bronchogram is its most common form...
June 1, 2018: Archivos Argentinos de Pediatría
Resul Karakuş, Esra Karakuş, Suna Emir, Ayper Kaçar, Derya Özyörük
Background/aim: Insulin-like growth factor-1 receptor (IGF-1R) is a pivotal receptor tyrosine kinase involved in the cell cycle and malignant tumor transformation. It is differentially expressed in various types of tumors. We aimed to determine the expression of IGF- 1R in different pediatric tumors and to shed light on possible new indications of anti-IGF-1R treatment approaches. Materials and methods: A total of 147 specimens were analyzed according to their expression of IGF-1R. Specimens included those from rhabdomyosarcomas, Wilms tumors, Ewing sarcoma/primitive neuroectodermal tumors, peripheral neuroblastic tumors, acute lymphoblastic lymphoma, Hodgkin lymphoma, Burkitt lymphoma, retinoblastoma, pleuropulmonary blastoma, Langerhans cell histiocytosis, endodermal sinus tumors (ESTs), and myeloid sarcoma...
April 30, 2018: Turkish Journal of Medical Sciences
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