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Wilms' tumor

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https://www.readbyqxmd.com/read/28081536/wt1-haploinsufficiency-supports-milder-renal-manifestation-in-two-patients-with-denys-drash-syndrome
#1
Mara S Guaragna, Juliana G Ribeiro de Andrade, Bárbara de Freitas Carli, Vera M S Belangero, Andréa T Maciel-Guerra, Gil Guerra-Júnior, Maricilda P de Mello
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon...
January 13, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28072975/-molecular-features-of-metanephric-adenoma-and-their-values-in-differential-diagnosis
#2
X Wang, S S Shi, W R Yang, S B Ye, R Li, H H Ma, R S Zhang, Z F Lu, X J Zhou, Q Rao
Objective: To study the molecular features of metanephric adenoma (MA) and discuss their values in differential diagnosis. Methods: BRAF V600E immunohistochemistry (IHC) using the mutation-specific VE1 monoclonal antibody and Sanger sequencing of BRAF mutations were performed on 21 MAs, 16 epithelial-predominant Wilms tumors (e-WT) and 20 the solid variant of papillary renal cell carcinomas (s-PRCC) respectively. p16 protein was detected by IHC also. Fluorescence in situ hybridization (FISH) analyses using centromeric probes for chromosome 7 and 17 were performed on the three renal tumors in parallel...
January 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28070651/inferior-vena-cava-involvement-in-children-with-wilms-tumor
#3
Abeer Al Diab, Nader Hirmas, Abdellatif Almousa, Ramiz Abu-Hijlih, Fatinah Aljlouni, Iyad Sultan, Khalil Ghandour
OBJECTIVES: Retrospective review of children with WT thrombus involving the IVC. METHODS: We reviewed the charts of 123 patients with WT diagnosed between January 2006 and December 2015. Patients with caval tumor thrombus were identified, demographic data, radiological images, extent of thrombus, chemo- and radiotherapy, surgical approach, pathology reports and outcomes were analyzed. RESULTS: IVC involvement was identified in 11 patients (9%)...
January 9, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28068926/screening-of-wt1-mutations-in-exon-8-and-9-in-children-with-steroid-resistant-nephrotic-syndrome-from-a-single-centre-and-establishment-of-a-rapid-screening-assay-using-high-resolution-melting-analysis-in-a-clinical-setting
#4
Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan, Anil Vasudevan
BACKGROUND: Mutations in Wilm's tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 of WT1 gene in 100 children with SRNS from a single centre. We standardized and validated High Resolution Melt (HRM) as a rapid and cost effective screening step to identify individuals with normal sequence and distinguish it from those with a potential mutation. Since only mutation positive samples identified by HRM will be further processed for sequencing it will help in reducing the sequencing burden and speed up the screening process...
January 10, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28067876/impact-of-wilms-tumor-1-expression-on-outcome-of-patients-undergoing-allogeneic-stem-cell-transplantation-for-aml
#5
R Duléry, O Nibourel, J Gauthier, V Elsermans, H Behal, V Coiteux, L Magro, A Renneville, A Marceau, T Boyer, B Quesnel, C Preudhomme, A Duhamel, I Yakoub-Agha
The monitoring of the minimal residual disease by Wilms' tumor 1 expression (MRD(WT1)) is a standardized test, which can be used in over 80% of patients with AML. To investigate the prognostic value of MRD(WT1) in patients undergoing allogeneic stem cell transplantation (allo-SCT) for AML, MRD(WT1) was monitored 3 months after transplantation in 139 patients. MRD(WT1) positivity did not lead to any therapeutic intervention. Median follow-up was 39.3 (6.4-99.8) months. Patients with positive MRD(WT1) at 3 months experienced more often post-transplant relapse (27/30, 90%) than those with negative MRD(WT1) (16/109, 14...
January 9, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28066808/effect-of-mr-imaging-contrast-thresholds-on-prediction-of-neoadjuvant-chemotherapy-response-in-breast-cancer-subtypes-a-subgroup-analysis-of-the-acrin-6657-i-spy-1-trial
#6
Wen Li, Vignesh Arasu, David C Newitt, Ella F Jones, Lisa Wilmes, Jessica Gibbs, John Kornak, Bonnie N Joe, Laura J Esserman, Nola M Hylton
Functional tumor volume (FTV) measurements by dynamic contrast-enhanced magnetic resonance imaging can predict treatment outcomes for women receiving neoadjuvant chemotherapy for breast cancer. Here, we explore whether the contrast thresholds used to define FTV could be adjusted by breast cancer subtype to improve predictive performance. Absolute FTV and percent change in FTV (ΔFTV) at sequential time-points during treatment were calculated and investigated as predictors of pathologic complete response at surgery...
December 2016: Tomography: a Journal for Imaging Research
https://www.readbyqxmd.com/read/28063884/bilateral-wilms-tumor-with-ureteral-extension
#7
Gina Lockwood, Fernando Ferrer, John Makari
Wilms tumor is the most common renal tumor in children. However, tumor extension into the ureter is exceedingly rare. We present a case of bilateral Wilms tumor with unilateral ureteral extension into the bladder. This case illustrates the importance of thoughtful diagnostic evaluation and surgical planning to obtain a good oncologic outcome while preserving renal function.
January 4, 2017: Urology
https://www.readbyqxmd.com/read/28057999/nephron-sparing-surgery-in-bilateral-wilms-tumor-a-report-of-two-cases
#8
Sohrab Arora, Sharmad Kudchadkar, Priyank Yadav, M S Ansari
Nephron-sparing surgery (NSS) has been proposed by many as an alternative to bilateral nephrectomies and renal replacement therapy in bilateral Wilms' tumor (BWT). NSS is not without significant recurrence, morbidity, and mortality. Long-term follow-up, especially with regard to the renal function, remains lacking. Preoperative computed tomography angiogram can help prepare a roadmap for NSS but can underestimate the salvageable parenchyma due to compression of normal adjacent parenchyma. Intraoperative ultrasound can delineate the boundary of surgical margin and help achieve negative margins...
October 2016: Urology Annals
https://www.readbyqxmd.com/read/28054314/turning-back-the-wheel-inducing-mesenchymal-to-epithelial-transition-via-wilms-tumor-1-knockdown-in-human-mesothelioma-cell-lines-to-influence-proliferation-invasiveness-and-chemotaxis
#9
Till Plönes, Mitja Fischer, Kerstin Höhne, Hiromi Sato, Joachim Müller-Quernheim, Gernot Zissel
Malignant pleural mesothelioma (MPM) is a highly aggressive tumor that arises from the surface of the pleura and is associated with a history of asbestos exposure. The tumor is characterized by a strong local invasiveness and a poor response to any single modality therapy. Therefore clinical outcome of patients with MPM is poor and median survival time of untreated patients with MPM is 7 months from initial diagnosis. The Wilms Tumor Protein 1 (WT1) is a transcription factor which is highly expressed by MPM and is involved in cellular development and survival...
January 4, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28048032/su-f-j-63-abdominal-diameter-changes-in-children-during-volumetric-modulated-arc-therapy-vmat-is-re-planning-needed
#10
F Guerreiro, G Janssens, E Seravalli, B Raaymakers
PURPOSE: To investigate the dosimetric impact of daily changes in patient's diameter, due to weight gain/loss and air in the bowel, based on CBCT information during radiotherapy treatment of pediatric abdominal tumors. METHODS: 10 pediatric patients with neuroblastoma (n=6) and Wilms' (n=4) tumors were included. Available CBCTs were affinely registered to the planning CT for daily set-up variations corrections. A density override approach assigning air-density to the random air pockets and water-density to the remaining anatomy was used to determine the CBCT and CT dose...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047673/su-d-207a-06-pediatric-abdominal-organ-motion-quantified-via-a-novel-4d-mri-method
#11
J Uh, M J Krasin, J T Lucas, C Tinkle, T E Merchant, C Hua
PURPOSE: To develop a 4D MRI method for assessing respiration-induced abdominal organ motion in children receiving radiation therapy. METHODS: A 4D MRI using internal image-based respiratory surrogate has been developed and implemented on a clinical scanner (1.5T Siemens Avanto). Ten patients (younger group: N=6, 2-5 years, anesthetized; older group: N=4, 11-15 years) with neuroblastoma, Wilm's tumor rhabdomyosarcoma, or desmoplastic small round cell tumor received free breathing 4D MRI scans for treatment planning...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047358/su-f-t-117-a-pilot-study-of-organ-dose-reconstruction-for-wilms-tumor-patients-treated-with-radiation-therapy
#12
R Makkia, M Gopalakrishnan, C Lee, M Mille, C Pelletier, J Kalapurakal, C Lee, J Jung
PURPOSE: To reconstruct major organ doses for the Wilms tumor pediatric patients treated with radiation therapy using pediatric computational phantoms, treatment planning system (TPS), and Monte Carlo (MC) dose calculation methods. METHODS: A total of ten female and male pediatric patients (15-88 months old) were selected from the National Wilms Tumor Study cohort and ten pediatric computational phantoms corresponding to the patient's height and weight were selected for the organ dose reconstruction...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28040504/wilms-tumor-with-metastasis-to-the-vagina-a-case-report
#13
Adam S Howe, Bradley A Morganstern, Heather Appelbaum, Sandeep Mehta, Lane S Palmer
A 12 year old female presented with abdominal pain, night sweats, weight loss, constipation, dysmenorrhea, menorrhagia, and vaginal discharge. Examination revealed a palpable flank mass and a large tumor adherent to the anterior vaginal wall. CT scan demonstrated a 23 cm mass in the left kidney, a separate 10.8 cm pelvic mass, and metastatic disease. Biopsies were consistent with Wilms tumor. Neoadjuvant chemotherapy and a left radical nephrectomy was performed for her Stage IV disease as the kidney was amiable to complete resection...
December 28, 2016: Urology
https://www.readbyqxmd.com/read/28040201/clinicopathological-parameters-and-prognostic-relevance-of-mir-21-and-pten-expression-in-wilms-tumor
#14
Mingyu Cui, Wei Liu, Lijuan Zhang, Feng Guo, Yang Liu, Fang Chen, Ting Liu, Rui Ma, Rongde Wu
BACKGROUND: MiR-21 is one of the most often found miRNAs overexpressed in solid tumors, while PTEN is the most highly mutated tumor suppressor gene. Our purpose was to examine the expression levels of miR-21 and PTEN protein in Wilms' tumor (WT) and in para-tumoral tissues and to investigate the relationships among miR-21, PTEN expression, clinicopathological parameters and the prognosis of patients with WT. METHODS: The expression levels of miR-21 and PTEN protein in WT and corresponding para-tumoral tissues were investigated by qRT-PCR and Western blot, respectively...
December 20, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28038473/gene-expression-changes-in-tumor-free-tongue-tissue-adjacent-to-tongue-squamous-cell-carcinoma
#15
Linda Boldrup, Xiaolian Gu, Philip J Coates, Lena Norberg-Spaak, Robin Fahraeus, Göran Laurell, Torben Wilms, Karin Nylander
Due to the high frequency of loco-regional recurrences, which could be explained by changes in the field surrounding the tumor, patients with squamous cell carcinoma of head and neck show poor survival. Here we identified a total of 554 genes as dysregulated in clinically tumor free tongue tissue in patients with tongue tumors when compared to healthy control tongue tissue. Among the top dysregulated genes when comparing control and tumor free tissue were those involved in apoptosis (CIDEC, MUC1, ZBTB16, PRNP, ECT2), immune response (IFI27) and differentiation (KRT36)...
December 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/28032309/the-general-expression-analysis-of-wtx-gene-in-normal-and-cancer-tissues
#16
Yao-Yao Zhang, Qi-Ming Wang, Hui-Lin Niu, Xia Liu, Qing-Ling Zhang
WTX (Wilms' tumor suppressor X chromosome) is a novel putative tumor suppressor gene in Wilms' tumor of kidney, its expression and function in other human cancers had not been explored. This study detected the expression of WTX in 459 cases of 15 organs of cancers and adjacent normal tissues by using immunohistochemical staining (IHC), and validated them by in situ hybridization (ISH) and quantitative real-time reverse transcription PCR (qRT-PCR). IHC and ISH data showed that WTX protein was generally expressed in normal tissues, but reduced expression in corresponding cancers...
December 28, 2016: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28018955/wilms-tumor-of-the-ovary
#17
Vinita M Alexander, Jane Meisel, Shannon O'Brien, Namita Khanna
Extrarenal Wilms' tumor of the ovary is a very rare tumor likely derived from embryonic mesonephros. We present the first reported case of a teratoid extrarenal Wilms' tumor of the ovary with a short review of the existing literature. In the case, a 26-year-old woman presented with back pain and was found to have a dermoid cyst; three years later, she presented again, now pregnant, with severe abdominal pain. She was diagnosed with an immature teratoma consisting of a Wilms' tumor (immature component) arising within a mature teratoma and treated exclusively with surgery and surveillance...
February 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28018457/relapsed-wilms-tumor-with-multiple-brain-metastasis
#18
Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi, Özlem Yapıcıer, Türker Kılıç
Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid mass in the cerebellum was resected, and whole-brain radiotherapy was performed, after which, she succumbed to her disease. In the case of clinical suspicion, cranial surveillance should be included in the routine clinical work-up for Wilms' tumor...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28011530/the-wilms-tumor-wt1-gene-methods-and-protocols
#19
(no author information available yet)
No abstract text is available yet for this article.
January 2017: Anticancer Research
https://www.readbyqxmd.com/read/28011277/large-cystic-metanephric-adenoma-in-a-15-year-old-girl
#20
Amanda F Saltzman, Alonso Carrasco, Michael A Maccini, Brian T Caldwell, Amy L Treece, Nicholas G Cost
Metanephric adenoma is a rare pediatric renal tumor, generally considered to be benign. It can be difficult to distinguish from Wilms tumor and renal cell carcinoma based on imaging alone, and even may be difficult on histopathologic analysis. We present a case of a large cystic metanephric adenoma managed with surgical resection. This case highlights the difficulty in managing cystic renal lesions in children and adolescents as there is a paucity of data on the radiologic and pathologic correlation in such patients...
December 20, 2016: Urology
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