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Pleuropulmonary And Blastoma

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https://www.readbyqxmd.com/read/30358469/pleuropulmonary-blastoma-developing-in-a-case-of-misinterpreted-congenital-pulmonary-airway-malformation-a-case-report
#1
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
https://www.readbyqxmd.com/read/30097050/wilms-tumor-pleuropulmonary-blastoma-and-dicer1-case-report-and-literature-review
#2
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
https://www.readbyqxmd.com/read/30049725/diagnostic-accuracy-of-imaging-studies-in-congenital-lung-malformations
#3
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
https://www.readbyqxmd.com/read/29940434/sudden-death-in-a-female-child-doe-to-undiagnosed-pleuropulmonary-blastoma-an-autopsy-case-and-review-of-literature
#4
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
https://www.readbyqxmd.com/read/29938629/-a-family-with-a-congenital-dicer1-mutation
#5
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
https://www.readbyqxmd.com/read/29920635/review-of-early-postoperative-metrics-for-children-undergoing-resection-of-congenital-pulmonary-airway-malformations-and-report-of-pleuropulmonary-blastoma-at-a-single-institution
#6
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
https://www.readbyqxmd.com/read/29883781/dicer1-mutation-positive-giant-botryoid-fibroepithelial-polyp-of-the-urinary-bladder-mimicking-embryonal-rhabdomyosarcoma
#7
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
https://www.readbyqxmd.com/read/29881993/primary-intracranial-spindle-cell-sarcoma-with-rhabdomyosarcoma-like-features-share-a-highly-distinct-methylation-profile-and-dicer1-mutations
#8
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
https://www.readbyqxmd.com/read/29799891/-pleuro-pulmonary-blastoma-presenting-as-a-chest-wall-deformity-a-case-report
#9
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
https://www.readbyqxmd.com/read/29756723/-pleuropulmonary-blastoma-case-report
#10
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
https://www.readbyqxmd.com/read/29714464/insulin-like-growth-factor-1-receptor-expression-in-pediatric-tumors-a-comparative-immunohistochemical-study
#11
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
https://www.readbyqxmd.com/read/29698806/identification-of-two-14q32-deletions-involving-dicer1-associated-with-the-development-of-dicer1-related-tumors
#12
John C Herriges, Sara Brown, Maria Longhurst, Jillian Ozmore, John B Moeschler, Aura Janze, Jeanne Meck, Sarah T South, Erica F Andersen
DICER1 encodes an RNase III endonuclease protein that regulates the production of small non-coding RNAs. Germline mutations in DICER1 are associated with an autosomal dominant hereditary cancer predisposition syndrome that confers an increased risk for the development of several rare childhood and adult-onset tumors, the most frequent of which include pleuropulmonary blastoma, ovarian sex cord-stromal tumors, cystic nephroma, and thyroid gland neoplasia. The majority of reported germline DICER1 mutations are truncating sequence-level alterations, suggesting that a loss-of-function type mechanism drives tumor formation in DICER1 syndrome...
April 24, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29441110/case-of-mucinous-adenocarcinoma-of-the-lung-associated-with-congenital-pulmonary-airway-malformation-in-a-neonate
#13
Juneyoug Koh, Euiseok Jung, Se Jin Jang, Dong Kwan Kim, Byong Sop Lee, Ki-Soo Kim, Ellen Ai-Rhan Kim
Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II CPAM complicated by multifocal mucinous adenocarcinoma. KRAS sequencing revealed a somatic mutation in Codon12 (GGT → GAT), suggesting the development of a mucinous adenocarcinoma in the background of mucinous metaplasia...
January 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29343557/-dicer1-and-associated-conditions-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#14
REVIEW
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, D Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma, and brain tumors including pineoblastoma and pituitary blastoma...
May 15, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29315962/multiple-dicer1-related-tumors-in-a-child-with-a-large-interstitial-14q32-deletion
#15
Leanne de Kock, Dominique Geoffrion, Barbara Rivera, Rabea Wagener, Nelly Sabbaghian, Susanne Bens, Benjamin Ellezam, Dorothée Bouron-Dal Soglio, Jessica Ordóñez, Stephanie Sacharow, Jose Fernando Polo Nieto, R Paul Guillerman, Gordan M Vujanic, John R Priest, Reiner Siebert, William D Foulkes
Germ-line interstitial deletions involving the 14q32 chromosomal region, resulting in 14q32 deletion syndrome, are rare. DICER1 is a recently described cancer-predisposition gene located at 14q32.13. We report the case of a male child with a ∼5.8 Mbp 14q32.13q32.2 germ-line deletion, which included the full DICER1 locus. We reviewed available clinical and pathological material, and conducted genetic analyses. In addition to having congenital dysmorphic features, the child developed multiple DICER1 syndrome-related tumors before age 5 y: a pediatric cystic nephroma (pCN), a ciliary body medulloepithelioma (CBME), and a small lung cyst (consistent with occult pleuropulmonary blastoma Type I/Ir cysts seen in DICER1 mutation carriers)...
May 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29081372/multiphoton-microscopy-a-novel-diagnostic-method-for-solid-tumors-in-a-prospective-pediatric-oncologic-cohort-an-experimental-study
#16
Oliver J Muensterer, Sibylle Waldron, Yoon Jung Boo, Claudius Ries, Lisa Sehls, Frank Simon, Larissa Seidmann, Jérôme Birkenstock, Jan Gödeke
BACKGROUND: The prognosis of solid pediatric tumors strongly correlates with accurate staging and complete local control. Currently, surgeons rely on macroscopic cues and intraoperative cryosection to determine resection borders. Multiphoton Microscopy (MPM) is a real time technique that allows imaging of tissue without time-consuming tissue processing. PURPOSE: This pilot study evaluates the diagnostic potential of MPM in pediatric solid tumors compared to routine histopathology...
December 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/29037807/dicer1-related-sertoli-leydig-cell-tumor-and-gynandroblastoma-clinical-and-genetic-findings-from-the-international-ovarian-and-testicular-stromal-tumor-registry
#17
Kris Ann P Schultz, Anne K Harris, Michael Finch, Louis P Dehner, Jubilee B Brown, David M Gershenson, Robert H Young, Amanda Field, Weiying Yu, Joyce Turner, Nicholas G Cost, Dominik T Schneider, Douglas R Stewart, A Lindsay Frazier, Yoav Messinger, D Ashley Hill
BACKGROUND: Ovarian sex cord-stromal tumors (OSCST) include juvenile granulosa cell tumors (JGCT), Sertoli-Leydig cell tumor (SLCT) and gynandroblastoma (GAB) among others. These ovarian sex cord-stromal tumors as well as other tumors including pleuropulmonary blastoma (PPB) may be associated with DICER1 mutations. We sought to describe the clinical and genetic findings from the first 107 individuals enrolled in the International Ovarian and Testicular Stromal Tumor Registry. METHODS: Medical and family history were obtained for individuals consecutively enrolled in the International Ovarian and Testicular Stromal Tumor Registry...
December 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28991133/pleuropulmonary-blastoma-a-single-center-case-series-of-6-patients
#18
Janie M Pierce, Priscilla LaCroix, Kenneth Heym, William P Bowman, Linda Margraf, Jose Iglesias, Anish Ray
Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood which when left untreated often shows pathologic progression resulting in a more aggressive neoplasm with an increasingly poor prognosis. Because of this it is important to diagnose and initiate treatment early. However, early stage PPB can appear as a cystic lung lesion on imaging and can be easily misdiagnosed given the rarity of the malignancy. Moreover, current therapeutic guidelines for these lesions are not well established, making treatment decisions and management difficult for clinicians...
November 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28960912/dicer1-syndrome-approach-to-testing-and-management-at-a-large-pediatric-tertiary-care-center
#19
Kalene van Engelen, Anita Villani, Jonathan D Wasserman, Laura Aronoff, Mary-Louise C Greer, Marta Tijerin Bueno, Bailey Gallinger, Raymond H Kim, Ronald Grant, M Stephen Meyn, David Malkin, Harriet Druker
BACKGROUND: To expand the current knowledge of DICER1 syndrome and to propose criteria for genetic testing based on experience at a pediatric tertiary care center. PROCEDURE: This study involved a retrospective chart review of the 78 patients (47 probands and 31 family members) seen in the Cancer Genetics Program at The Hospital for Sick Children (SickKids) who were offered genetic testing for DICER1. RESULTS: Of 47 probands offered genetic testing for DICER1, 46 pursued testing: 11 (23...
January 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28898554/pulmonary-blastoma-in-a-child-report-of-a-case-with-cytological-findings
#20
Mou Das, Priyanka Maity Chaudhuri, Anis Bandyopadhyay, Uttara Chatterjee
Pulmonary blastoma is an uncommon tumour. It constitutes <0.1% of all resected lung cancers. It is even more rare in children with only a few case reports describing this entity in them. Pulmonary blastoma should not be confused with pleuropulmonary blastoma which is a paediatric lung tumour with different morphology and better outcome. Here we take the opportunity of describing pulmonary blastoma in a 3 years old child along with its cytological findings.
February 2018: Diagnostic Cytopathology
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