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Wilms tumour infant

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https://www.readbyqxmd.com/read/27639996/re-implantation-of-cryopreserved-ovarian-cortex-resulting-in-restoration-of-ovarian-function-natural-conception-and-successful-pregnancy-after-haematopoietic-stem-cell-transplantation-for-wilms-tumour
#1
C E Dunlop, B M Brady, M McLaughlin, E E Telfer, J White, F Cowie, S Zahra, W H B Wallace, R A Anderson
With the improvement of long-term cancer survival rates, growing numbers of female survivors are suffering from treatment-related premature ovarian insufficiency (POI). Although pre-treatment embryo and oocyte storage are effective fertility preservation strategies, they are not possible for pre-pubertal girls or women who cannot delay treatment. In these cases, the only available treatment option is ovarian cortex cryopreservation and subsequent re-implantation. A 32-year-old woman had ovarian cortex cryopreserved 10 years previously before commencing high-dose chemotherapy and undergoing a haematopoietic stem cell transplant for recurrent adult Wilms tumour, which resulted in POI...
September 17, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/26875154/adaptive-dosing-of-anticancer-drugs-in-neonates-facilitating-evidence-based-dosing-regimens
#2
Gareth J Veal, Julie Errington, Jairam Sastry, Julia Chisholm, Penelope Brock, Daniel Morgenstern, Kathy Pritchard-Jones, Tanzina Chowdhury
PURPOSE: Selection of the most appropriate chemotherapy dosing regimens for neonates treated within the first weeks of life represents a significant clinical dilemma. Due to a lack of information relating to the clinical pharmacology of anticancer drugs in these challenging patients, current dosing guidelines are based on limited scientific rationale. In the current study, we investigate the utilisation of therapeutic drug monitoring approaches in neonates with localised hepatoblastoma, Wilms' tumour and stage 4S neuroblastoma, being treated with widely used anticancer drugs...
April 2016: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/25688735/a-high-incidence-of-wt1-abnormality-in-bilateral-wilms-tumours-in-japan-and-the-penetrance-rates-in-children-with-wt1-germline-mutation
#3
Y Kaneko, H Okita, M Haruta, Y Arai, T Oue, Y Tanaka, H Horie, S Hinotsu, T Koshinaga, A Yoneda, Y Ohtsuka, T Taguchi, M Fukuzawa
BACKGROUND: Bilateral Wilms tumours (BWTs) occur by germline mutation of various predisposing genes; one of which is WT1 whose abnormality was reported in 17-38% of BWTs in Caucasians, whereas no such studies have been conducted in East-Asians. Carriers with WT1 mutations are increasing because of improved survival. METHODS: Statuses of WT1 and IGF2 were examined in 45 BWTs from 31 patients with WT1 sequencing and SNP array-based genomic analyses. The penetrance rates were estimated in WT1-mutant familial Wilms tumours collected from the present and previous studies...
March 17, 2015: British Journal of Cancer
https://www.readbyqxmd.com/read/25592561/outcome-of-localised-blastemal-type-wilms-tumour-patients-treated-according-to-intensified-treatment-in-the-siop-wt-2001-protocol-a-report-of-the-siop-renal-tumour-study-group-siop-rtsg
#4
M M van den Heuvel-Eibrink, H van Tinteren, C Bergeron, A Coulomb-L'Hermine, B de Camargo, I Leuschner, B Sandstedt, T Acha, J Godzinski, F Oldenburger, S L Gooskens, J de Kraker, G M Vujanic, K Pritchard-Jones, N Graf
Blastemal-type Wilms tumour (BT-WT) has been identified as a high risk histological subgroup in WT assessed after pre-nephrectomy chemotherapy in trials of the International Society of Paediatric Oncology (SIOP) Renal Tumour Study Group. Therefore, in SIOPWT2001, post-operative chemotherapy for BT-WT was intensified aiming to improve survival. Survival analysis of all unilateral BT-WT patients (SIOPWT2001) (n=238), was compared with historical BT-WT controls (SIOP93-01) (n=113). 351/4061 (8.6%) unilateral non-metastatic BT-WT patients (SIOP93-01/SIOPWT2001) were studied...
March 2015: European Journal of Cancer
https://www.readbyqxmd.com/read/25465191/risk-factors-for-local-recurrence-in-wilms-tumour-and-the-potential-influence-of-biopsy-the-united-kingdom-experience
#5
RANDOMIZED CONTROLLED TRIAL
S Irtan, M Jitlal, J Bate, M Powis, G Vujanic, A Kelsey, J Walker, C Mitchell, D Machin, K Pritchard-Jones
RATIONALE: The UKW3 trial compared biopsy/pre-operative chemotherapy versus immediate nephrectomy and afforded the opportunity to examine the influence of percutaneous retroperitoneal biopsy and other factors on local and distant relapse of Wilms tumour (WT). METHODS: Patients with unilateral WT (stages I-IV) excluding metachronous relapse or early progressive disease were eligible. Metastatic and 'inoperable' tumours were biopsied electively. 'Local' was defined as relapse within the abdomen, except for liver metastases considered as 'distant' relapse, together with other haematogenous routes...
January 2015: European Journal of Cancer
https://www.readbyqxmd.com/read/25395469/eye-disorders-in-newborn-infants-excluding-retinopathy-of-prematurity
#6
REVIEW
Michael J Wan, Deborah K VanderVeen
A screening eye examination is an essential part of the newborn assessment. The detection of many ocular disorders in newborn infants can be achieved through careful observation of the infant's visual behaviour and the use of a direct ophthalmoscope to assess the ocular structures and check the red reflex. Early diagnosis and subspecialty referral can have a critical impact on the prognosis for many ocular conditions, including potentially blinding but treatable conditions such as congenital cataracts, life-threatening malignancies such as retinoblastoma and harbingers of disease elsewhere such as sporadic aniridia and its association with the development of Wilms tumour...
May 2015: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/25313908/tp53-mutational-status-is-a-potential-marker-for-risk-stratification-in-wilms-tumour-with-diffuse-anaplasia
#7
Mariana Maschietto, Richard D Williams, Tasnim Chagtai, Sergey D Popov, Neil J Sebire, Gordan Vujanic, Elizabeth Perlman, James R Anderson, Paul Grundy, Jeffrey S Dome, Kathy Pritchard-Jones
PURPOSE: The presence of diffuse anaplasia in Wilms tumours (DAWT) is associated with TP53 mutations and poor outcome. As patients receive intensified treatment, we sought to identify whether TP53 mutational status confers additional prognostic information. PATIENTS AND METHODS: We studied 40 patients with DAWT with anaplasia in the tissue from which DNA was extracted and analysed for TP53 mutations and 17p loss. The majority of cases were profiled by copy number (n = 32) and gene expression (n = 36) arrays...
2014: PloS One
https://www.readbyqxmd.com/read/25213396/wilms-tumour-in-malawi-surgical-staging-to-stratify-postoperative-chemotherapy
#8
Eric Borgstein, Steve Kamiza, Gordan Vujanic, Dalida Pidini, Simon Bailey, Tamiwe Tomoka, Kondwani Banda, Gertjan Kaspers, Elizabeth Molyneux, Trijn Israels
BACKGROUND: Wilms tumour postoperative chemotherapy is ideally stratified according to the pathologist's assessment of tumour stage and risk classification (tumour type). In sub-Saharan Africa results are often not available in time to influence therapy and in Malawi surgical staging has been used to stratify postoperative chemotherapy. Here we compare the results from surgical and both local pathology and central pathology review. PROCEDURE: Children diagnosed with a Wilms tumour in Blantyre, Malawi between 2007 and 2011 were included if they had a nephrectomy and the pathology slides were available...
December 2014: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/25190313/somatic-mutations-in-drosha-and-dicer1-impair-microrna-biogenesis-through-distinct-mechanisms-in-wilms-tumours
#9
Dinesh Rakheja, Kenneth S Chen, Yangjian Liu, Abhay A Shukla, Vanessa Schmid, Tsung-Cheng Chang, Shama Khokhar, Jonathan E Wickiser, Nitin J Karandikar, James S Malter, Joshua T Mendell, James F Amatruda
Wilms tumour is the most common childhood kidney cancer. Here we report the whole-exome sequencing of 44 Wilms tumours, identifying missense mutations in the microRNA (miRNA)-processing enzymes DROSHA and DICER1, and novel mutations in MYCN, SMARCA4 and ARID1A. Examination of tumour miRNA expression, in vitro processing assays and genomic editing in human cells demonstrates that DICER1 and DROSHA mutations influence miRNA processing through distinct mechanisms. DICER1 RNase IIIB mutations preferentially impair processing of miRNAs deriving from the 5'-arm of pre-miRNA hairpins, while DROSHA RNase IIIB mutations globally inhibit miRNA biogenesis through a dominant-negative mechanism...
2014: Nature Communications
https://www.readbyqxmd.com/read/25099282/germline-mutations-in-the-paf1-complex-gene-ctr9-predispose-to-wilms-tumour
#10
Sandra Hanks, Elizabeth R Perdeaux, Sheila Seal, Elise Ruark, Shazia S Mahamdallie, Anne Murray, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Bianca de Souza, Margaret Warren-Perry, Anna Elliott, Alan Davidson, Helen Price, Charles Stiller, Kathy Pritchard-Jones, Nazneen Rahman
Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population controls (P<0.0001). Each mutation segregates with Wilms tumour in the family and a second mutational event is present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency...
August 7, 2014: Nature Communications
https://www.readbyqxmd.com/read/24678362/case-report-and-literature-review-of-a-rare-diagnosis-of-ossifying-renal-tumour-of-infancy
#11
Ryan Kendrick Flannigan, Manraj Kanwal Singh Heran, Angelica Oviedo, Nathan Wong, John S T Masterson
One must entertain a broad differential diagnosis for infants presenting with gross hematuria. Initial workup includes urine analysis, serum laboratory values and abdominal ultrasound. We describe an infant presenting with gross hematuria found to have a calcified renal mass upon initial ultrasound and subsequent computed tomography scan. We considered a differential diagnosis of, but not exclusive to, staghorn calculi, nephroblastoma, Wilms' tumour, mesoblastic nephroma and ossifying renal tumour of infancy (ORTI)...
March 2014: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/24676357/expanding-the-phenotype-of-mutations-in-dicer1-mosaic-missense-mutations-in-the-rnase-iiib-domain-of-dicer1-cause-glow-syndrome
#12
Steven Klein, Hane Lee, Shahnaz Ghahremani, Pamela Kempert, Mariam Ischander, Michael A Teitell, Stanley F Nelson, Julian A Martinez-Agosto
BACKGROUND: Constitutional DICER1 mutations have been associated with pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig tumours and multinodular goitres, while somatic DICER1 mutations have been reported in additional tumour types. Here we report a novel syndrome termed GLOW, an acronym for its core phenotypic findings, which include Global developmental delay, Lung cysts, Overgrowth and Wilms tumour caused by mutations in the RNase IIIb domain of DICER1. METHODS AND RESULTS: We performed whole exome sequencing on peripheral mononuclear blood cells of an affected proband and identified a de novo missense mutation in the RNase IIIb domain of DICER1...
May 2014: Journal of Medical Genetics
https://www.readbyqxmd.com/read/24671327/a-massive-retroperitoneal-neuroblastoma-with-stenosis-of-the-inferior-vena-cava-in-a-5-month-old-boy
#13
Jui-Ting Li, Yang-Hong Dai, Shih-Ming Kuo
Neuroblastoma is the second most common retroperitoneal tumour in children after Wilms' tumour. When it originates in the retroperitoneum, neuroblastoma usually presents as an abdominal mass with clinical manifestations of nausea, vomiting and weight loss. Imaging studies of this tumour demonstrate a heterogeneous mass with an irregular capsule and visible calcifications. Encasement and compression of the abdominal vessels, especially the inferior vena cava, are often observed. However, stenosis of the inferior vena cava has never been reported to be associated with this tumour...
2014: BMJ Case Reports
https://www.readbyqxmd.com/read/24607494/wt1-expression-increases-with-malignancy-and-indicates-unfavourable-outcome-in-astrocytoma
#14
Julian Rauscher, Rudi Beschorner, Midea Gierke, Sotirios Bisdas, Christian Braun, Florian H Ebner, Jens Schittenhelm
AIMS: The zinc finger transcription factor WT1 is expressed in astrocytic neoplasms and therefore is a potential target of immunotherapy in brain tumours. Our aim was to further elucidate the role of WT1 as a diagnostic and prognostic marker in neuropathology, particularly as to the differentiation of astrocytoma from oligodendroglioma as well as to the dependency of WT1 expression on clinically relevant parameters. METHODS: 829 evaluable brain tumour samples were investigated by WT1 immunohistochemistry on full tissue routine slides, consisting of 442 glioblastomas, 303 astrocytomas, 41 oligodendrogliomas and 43 oligoastrocytomas...
July 2014: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/24507548/adult-life-after-childhood-cancer-in-scandinavia-diabetes-mellitus-following-treatment-for-cancer-in-childhood
#15
Anna Sällfors Holmqvist, Jørgen H Olsen, Klaus Kaae Andersen, Sofie de Fine Licht, Lars Hjorth, Stanislaw Garwicz, Christian Moëll, Harald Anderson, Finn Wesenberg, Laufey Tryggvadottir, Nea Malila, John D Boice, Henrik Hasle, Jeanette Falck Winther
AIM: An increased risk for diabetes mellitus (DM) adds significantly to the burden of late complications in childhood cancer survivors. Complications of DM may be prevented by using appropriate screening. It is, therefore, important to better characterise the reported increased risk for DM in a large population-based setting. MATERIALS AND METHODS: From the national cancer registries of the five Nordic countries, a cohort of 32,903 1-year survivors of cancer diagnosed before the age of 20 between start of cancer registration in the 1940s and 1950s through 2008 was identified; 212,393 comparison subjects of the same age, gender and country were selected from national population registers...
April 2014: European Journal of Cancer
https://www.readbyqxmd.com/read/24314616/childhood-cancer-survival-in-europe-1999-2007-results-of-eurocare-5-a-population-based-study
#16
Gemma Gatta, Laura Botta, Silvia Rossi, Tiiu Aareleid, Magdalena Bielska-Lasota, Jacqueline Clavel, Nadya Dimitrova, Zsuzsanna Jakab, Peter Kaatsch, Brigitte Lacour, Sandra Mallone, Rafael Marcos-Gragera, Pamela Minicozzi, Maria-José Sánchez-Pérez, Milena Sant, Mariano Santaquilani, Charles Stiller, Andrea Tavilla, Annalisa Trama, Otto Visser, Rafael Peris-Bonet
BACKGROUND: Survival and cure rates for childhood cancers in Europe have greatly improved over the past 40 years and are mostly good, although not in all European countries. The EUROCARE-5 survival study estimates survival of children diagnosed with cancer between 2000 and 2007, assesses whether survival differences among European countries have changed, and investigates changes from 1999 to 2007. METHODS: We analysed survival data for 157,499 children (age 0-14 years) diagnosed between Jan 1, 1978 and Dec 31, 2007...
January 2014: Lancet Oncology
https://www.readbyqxmd.com/read/24281860/non-activated-protein-c-rescue-treatment-in-wilms-tumour-associated-hepatic-sinusoidal-obstructive-syndrome
#17
Francesco De Leonardis, Roberta Koronica, Stefania D Bruno, Nicola Santoro
Hepatic sinusoidal obstructive syndrome (HSOS) is a frequent complication in patients undergoing haematopoietic stem cell transplant (HSCT), and more rarely, in paediatric patients receiving conventional chemotherapy for solid tumours. Its diagnosis relies on a combination of clinical signs and symptoms such as hepatomegaly, jaundice, weight gain and fluid retention. HSOS treatment is primarily based on supportive care and anti-fibrinolytic agents. Here we report two patients affected by Wilms tumour who developed life-threatening HSOS that failed to respond to conventional treatment...
May 2014: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/24210183/surgical-complications-after-immediate-nephrectomy-versus-preoperative-chemotherapy-in-non-metastatic-wilms-tumour-findings-from-the-1991-2001-united-kingdom-children-s-cancer-study-group-ukw3-trial
#18
COMPARATIVE STUDY
Mark Powis, Boo Messahel, Rachel Hobson, Peter Gornall, Jenny Walker, Kathy Pritchard-Jones
PURPOSE: To compare surgical complication rates after immediate nephrectomy versus delayed nephrectomy following preoperative chemotherapy in children with non-metastatic Wilms' tumour enrolled in UKW3, both in randomised patients and in those for whom the treatment approach was defined by parental or physician choice. METHODS: Records for all patients enrolled into UKW3 were reviewed. Any record of tumour rupture or surgical complication was extracted and comparisons made between the two treatment strategies in both populations of randomised and non-randomised patients...
November 2013: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/23464780/risk-stratification-and-consecutive-prognosis-progresses-in-childhood-wilms-tumors-two-cases-report
#19
S Diaconescu, C Olaru, D Mihailă, S G Aprodu, I Miron
BACKGROUND: Even if Wilms' tumour is the commonest primary malignant neoplasia in children, it maintained a continuous interest due to actual therapeutic successes contrasting with the customary delayed diagnosis, malignancy and specific risk factors. PATIENTS AND METHODS: Two recent illustrative cases from our clinic are presented. The first one - a little girl of 22 months with repeated admissions for habitual constipation and psychomental disturbances revealed at abdominal ultrasonography a hypo-echoic mass at the superior pole of the right kidney...
January 2013: Chirurgia
https://www.readbyqxmd.com/read/23456286/bilateral-wilms-tumour-in-a-developing-country-a-descriptive-study
#20
G P Hadley, M Mars, P K Ramdial
PURPOSE: To present our experience of 20 children with bilateral Wilms' tumour seen in a resource-challenged environment over a 10-year period. METHOD: All patients with a diagnosis of bilateral synchronous Wilms' tumour were identified and recruited. RESULTS: Study patients represented 11 % of a cohort of 177 new patients with Wilms' tumour seen over the same period. Three patients had a syndromic predisposition to Wilms' tumour. Metastatic disease was seen at presentation in four patients (20 %) and three children presented with unilateral tumour rupture...
May 2013: Pediatric Surgery International
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