scholarly journals Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience

Cancer ◽  
2020 ◽  
Author(s):  
Janna A. Hol ◽  
Marjolijn C. J. Jongmans ◽  
Hélène Sudour‐Bonnange ◽  
Gema L. Ramírez‐Villar ◽  
Tanzina Chowdhury ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Wilms Tumor ◽  
Wagr Syndrome

scholarly journals Comparative analysis of the clinical characteristics and outcomes of patients with Wilms tumor in the United Kingdom and Japan

2021 ◽  
Author(s):  
Kayo Nakata ◽  
Richard Williams ◽  
Yoshiaki Kinoshita ◽  
Tsugumichi Koshinaga ◽  
Veronica Moroz ◽  
...  
Keyword(s):  
United Kingdom ◽  
Comparative Analysis ◽  
Clinical Characteristics ◽  
Wilms Tumor ◽  
The United Kingdom

scholarly journals Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803 ◽  
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

scholarly journals A Case of Wilms Tumor with a Tumor Thrombus in a Boy with WAGR Syndrome

2020 ◽  
Vol 27 (2) ◽  
pp. 134-137
Author(s):  
Soojung Lee ◽  
Hyo Jin Kim ◽  
In-sang Jeon
Keyword(s):  
Tumor Thrombus ◽  
Wilms Tumor ◽  
Wagr Syndrome

Adult Wilms' tumor: clinical characteristics of four cases and review of the literature

2000 ◽  
Vol 4 (1) ◽  
pp. 76-80
Author(s):  
M. Hayakawa ◽  
T. Asano ◽  
S. Suzuki ◽  
A. Tsuji ◽  
S. Tamai
Keyword(s):  
Clinical Characteristics ◽  
Wilms Tumor ◽  
Review Of The Literature

scholarly journals 1067 Neoplasia in Association with a Congenital Anomaly: Wilms Tumor in a Horseshoe Kidney

2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
M Mubarak ◽  
O Alhamdan ◽  
H Alaradi ◽  
S Alhindi
Keyword(s):  
Ct Scan ◽  
Congenital Anomalies ◽  
Wilms Tumor ◽  
Horseshoe Kidney ◽  
Histopathological Analysis ◽  
Multiple Congenital Anomalies ◽  
Wagr Syndrome ◽  
Wilm's Tumor ◽  
Wilm’S Tumor

Abstract Introduction Horseshoe malformation is the most common form of fusion defects involving the kidney, whereas Wilm's tumor is the most common primary malignant renal tumor in children. The co-incidence of these two pathologies gives off an incidence rate of 0.48%. Case Report This is a case of a two-year-old female who presented early in life with multiple congenital anomalies including congenital heart disease, bilateral aniridia, persistent thrombocytopenia, and sickle cell trait in association with a painless abdominal mass. A CT scan showed a horseshoe kidney. The patient was lost for follow up until the age of two years, in which another CT scan revealed a left lower pole focal cystic mass measuring 5.1x5.3x6.3cm. WAGR syndrome was suspected and confirmed through genetic testing. A multidisciplinary approach was necessary to manage her efficiently due to the numerous co-existing congenital pathologies. The patient underwent six cycles of chemotherapy leading to a 35% reduction in tumor size and a left nephrectomy. She was admitted to the pediatric ICU post-operatively for observation. Histopathological analysis revealed features of stage two stromal type nephroblastoma. Her renal function and urine output were satisfactory throughout the duration of her admission as well as on follow up. Conclusions Keeping a high index of suspicion is imperative; individuals with renal anomalies, namely horseshoe kidney in the context of WAGR syndrome, mandate a comprehensive assessment through clinical examination, laboratory workup, and imaging. Though different approaches to standard Wilm's tumor cases have been explored thoroughly, it is crucial to keep in mind the need for multidisciplinary involvement in patients with multiple congenital anomalies.

scholarly journals Characteristics of Nephroblastoma/Nephroblastomatosis in Children with a Clinically Reported Underlying Malformation or Cancer Predisposition Syndrome

Cancers ◽  
2021 ◽  
Vol 13 (19) ◽  
pp. 5016
Author(s):  
Nils Welter ◽  
Angelo Wagner ◽  
Rhoikos Furtwängler ◽  
Patrick Melchior ◽  
Leo Kager ◽  
...  
Keyword(s):  
Retrospective Analysis ◽  
Clinical Features ◽  
Tumor Volume ◽  
Wilms Tumor ◽  
Cancer Predisposition ◽  
Event Free Survival ◽  
Free Survival ◽  
Cancer Predisposition Syndrome ◽  
Wagr Syndrome ◽  
Drash Syndrome

(1) Background: about 10% of Wilms Tumor (WT) patients have a malformation or cancer predisposition syndrome (CPS) with causative germline genetic or epigenetic variants. Knowledge on CPS is essential for genetic counselling. (2) Methods: this retrospective analysis focused on 2927 consecutive patients with WTs registered between 1989 and 2017 in the SIOP/GPOH studies. (3) Results: Genitourinary malformations (GU, N = 66, 2.3%), Beckwith-Wiedemann spectrum (BWS, N = 32, 1.1%), isolated hemihypertrophy (IHH, N = 29, 1.0%), Denys-Drash syndrome (DDS, N = 24, 0.8%) and WAGR syndrome (N = 20, 0.7%) were reported most frequently. Compared to others, these patients were younger at WT diagnosis (median age 24.5 months vs. 39.0 months), had smaller tumors (349.4 mL vs. 487.5 mL), less often metastasis (8.2% vs. 18%), but more often nephroblastomatosis (12.9% vs. 1.9%). WT with IHH was associated with blastemal WT and DDS with stromal subtype. Bilateral WTs were common in WAGR (30%), DDS (29%) and BWS (31%). Chemotherapy induced reduction in tumor volume was poor in DDS (0.4% increase) and favorable in BWS (86.9% reduction). The event-free survival (EFS) of patients with BWS was significantly (p = 0.002) worse than in others. (4) Conclusions: CPS should be considered in WTs with specific clinical features resulting in referral to a geneticist. Their outcome was not always favorable.

scholarly journals Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

2021 ◽  
Vol 9 ◽  
Author(s):  
Kelly A. Duffy ◽  
Kelly L. Trout ◽  
Jennifer M. Gunckle ◽  
Shari McCullen Krantz ◽  
John Morris ◽  
...  
Keyword(s):  
Care Management ◽  
Wilms Tumor ◽  
Genetic Disorder ◽  
Spectrum Disorder ◽  
Patient Registry ◽  
Management Approach ◽  
Syndrome Patient ◽  
Clinical Issues ◽  
Wagr Syndrome ◽  
Wide Range

WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. In addition to the classic features, patients affected by WAGR syndrome can develop obesity and kidney failure, and a wide variety of non-classical manifestations have also been described. This suggests that a broader phenotypic spectrum beyond the classic syndrome exists and here we demonstrate that spectrum using data from the WAGR Syndrome Patient Registry. In the present study, we collected information from 91 individuals enrolled in the registry to explore self-reported health issues in this patient population. A wide variety of common clinical issues not classically associated with the disorder were found, prompting the redefinition from WAGR syndrome to WAGR spectrum disorder to incorporate the phenotypic variations that occur. A comprehensive care management approach is needed to address the wide range of clinical issues and we propose a care model for patients affected by WAGR spectrum disorder. Further research is needed to solidify the breath of the phenotype and confirm the observations in this study to advance individualized patient care in this population.

The Clinical Characteristics and Survival Profiles of Wilms Tumor in the United Arab Emirates: A Single-center Retrospective Analysis

2021 ◽  
Vol 2 (1) ◽  
pp. 84-90
Author(s):  
Abdulrahman Mohammad AlJassmi ◽  
Asim Noor Rana ◽  
Hani Humad ◽  
Anjan Madasu
Keyword(s):  
United Arab Emirates ◽  
Clinical Characteristics ◽  
Large Scale ◽  
Wilms Tumor ◽  
Small Sample Size ◽  
Survival Rates ◽  
The United States ◽  
Small Sample ◽  
Abdominal Masses ◽  
Bilateral Lesions

Background: Wilms tumor (WT) is the most common pediatric kidney tumor, yet the disease has variable clinical characteristics and prognostic outcomes across different populations. Objectives: To review the clinical characteristics and survival outcomes of children with WT who have received treatment at Dubai Hospital, UAE. Results: Ten children were diagnosed with WT (median age of 3.40 years, 60% males). All patients presented with abdominal masses without a prominent pain. Synchronous bilateral lesions were found at diagnosis in one patient and metastatic lesions in three patients. Four children were discharged against medical advice, five received treatment according to the SIOP WT 2001 regimen, while the remaining patient was managed in the United States according to the National Wilms Tumor Study Group (NWTSG) protocol. The overall 6-year and relapse-free survival rates were 90% and 80%, respectively. Conclusion: The clinical characteristics and managemental outcomes of children presenting with WT are promising, possibly owing to adopting the SIOP protocol. Considering the small sample size, more large-scale, nation-wide studies are warranted.

Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

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