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

Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5743
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

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. (Methods: this retrospective analysis focused on 2927 consecutive patients with WTs registered between 1989 and 2017 in the SIOP/GPOH studies. 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. 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 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 Characteristics of Nephroblastoma / Nephroblastomatosis in Children With a Clinically Reported Underlying Malformation or Cancer Predisposition Syndrome

2021 ◽  
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

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. Methods: This retrospective analysis focused on 2927 consecutive patients with WTs registered between 1989 and 2017 in the SIOP/GPOH studies. Results: (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 (334,8mL vs. 496,9mL), 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 (7,7% increase) and favorable in BWS (84,6% reduction). The event-free survival (EFS) of patients with BWS was significantly (p=0,002) worse than in others. Conclusions: CPS should be considered in WTs with specific clinical features resulting in referral to a geneticist. Their outcome was not always favorable.

Localized Ewing Tumor of Bone: Final Results of the Cooperative Ewing’s Sarcoma Study CESS 86

2001 ◽  
Vol 19 (6) ◽  
pp. 1818-1829 ◽  
Author(s):  
M. Paulussen ◽  
S. Ahrens ◽  
J. Dunst ◽  
W. Winkelmann ◽  
G.U. Exner ◽  
...  
Keyword(s):  
High Risk ◽  
Tumor Volume ◽  
Ewing's Sarcoma ◽  
Central Axis ◽  
Event Free Survival ◽  
Histologic Response ◽  
Free Survival ◽  
Risk Patients ◽  
Standard Risk ◽  
Ewing Tumor

PURPOSE: Cooperative Ewing’s Sarcoma Study (CESS) 86 aimed at improving event-free survival (EFS) in patients with high-risk localized Ewing tumor of bone. PATIENTS AND METHODS: We analyzed 301 patients recruited from January 1986 to July 1991 (60% male; median age 15 years). Tumors of volume >100 mL and/or at central-axis sites qualified patients for “high risk” (HR, n = 241), and small extremity lesions for “standard risk” (SR, n = 52). Standard-risk patients received 12 courses of vincristine, cyclophosphamide, and doxorubicin alternating with actinomycin D (VACA); HR patients received ifosfamide instead of cyclophosphamide (VAIA). Tumor sites were pelvis (27%), other central axis (28%), femur (19%), or other extremity (26%). The initial tumor volume was <100 mL in 33% of cases and ≥100 mL in 67%. Local therapy was surgery (23%), surgery plus radiotherapy (49%), or radiotherapy alone (28%). Event-free survival rates were estimated by Kaplan-Meier analyses, comparisons were done by log-rank test, and risk factors were analyzed by Cox models. RESULTS: On May 1, 1999 (median time under study, 133 months), the 10-year EFS was 0.52. Event-free survival did not differ between SR-VACA (0.52) and HR-VAIA (0.51, P = .92). Tumor volume of >200 mL (EFS, 0.36 v 0.63 for smaller tumors; P = .0001) and poor histologic response (EFS, 0.38 v 0.64 for good responders; P = .0007) had negative impacts on EFS. In multivariate analyses, small tumor volumes of <200 mL, good histologic response, and VAIA chemotherapy augured for fair outcome. Six of 301 patients (2%) died under treatment, and four patients (1.3%) developed second malignancies. CONCLUSION: Fifty-two percent of CESS 86 patients survived after risk-adapted therapy. High-risk patients seem to have benefited from intensified treatment that incorporated ifosfamide.

Metabolic tumor volume to predict event free survival in patients with relapsed/refractory HL treated with brentuximab vedotin-based salvage therapy.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 11566-11566
Author(s):  
Somali C. Gavane ◽  
Kimiteru Ito ◽  
Craig H. Moskowitz ◽  
Alison J. Moskowitz ◽  
Heiko Schöder
Keyword(s):  
Salvage Therapy ◽  
Tumor Volume ◽  
Metabolic Tumor Volume ◽  
Brentuximab Vedotin ◽  
Event Free Survival ◽  
Free Survival

scholarly journals Treatment of Stage IV Favorable Histology Wilms Tumor With Lung Metastases: A Report From the Children’s Oncology Group AREN0533 Study

2018 ◽  
Vol 36 (16) ◽  
pp. 1564-1570 ◽  
Author(s):  
David B. Dix ◽  
Nita L. Seibel ◽  
Yueh-Yun Chi ◽  
Geetika Khanna ◽  
Eric Gratias ◽  
...  
Keyword(s):  
Treatment Strategy ◽  
Wilms Tumor ◽  
Lung Metastases ◽  
Lung Nodule ◽  
Stage Iv ◽  
Event Free Survival ◽  
Free Survival ◽  
Favorable Histology ◽  
Isolated Lung ◽  
Event Rates

Purpose The National Wilms Tumor Study (NWTS) treatment of favorable histology Wilms tumor with lung metastases was vincristine/dactinomycin/doxorubicin (DD4A) and lung radiation therapy (RT). The AREN0533 study applied a new risk stratification and treatment strategy to improve event-free survival (EFS) while reducing exposure to lung RT. Methods Patients with favorable histology Wilms tumor and isolated lung metastases showing complete lung nodule response (CR) after 6 weeks of DD4A continued receiving chemotherapy without lung RT. Patients with incomplete response (IR) or loss of heterozygosity at chromosomes 1p/16q received lung RT and four cycles of cyclophosphamide/etoposide in addition to DD4A drugs (Regimen M). AREN0533 was designed to preserve a 4-year EFS of 85% for lung nodule CR and improve 4-year EFS from 75% to 85% for lung nodule IR. Results Among 292 assessable patients, 133 had CR and 159 had IR. For patients with CR, 4-year EFS and overall survival (OS) estimates were 79.5% (95% CI, 71.2% to 87.8%) and 96.1% (95% CI, 92.1% to 100%), respectively. Expected versus observed event rates were 15% and 20.2% ( P = .052), respectively. For patients with IR, 4-year EFS and OS estimates were 88.5% (95% CI, 81.8% to 95.3%) and 95.4% (95% CI, 90.9% to 99.8%), respectively. Expected versus observed event rates were 25% and 12.2% ( P < .001), respectively. Overall, 4-year EFS and OS were 85.4% (95% CI, 80.5% to 90.2%) and 95.6% (95% CI, 92.8% to 98.4%) compared with 72.5% (95% CI, 66.9% to 78.1%; P < .001) and 84.0% (95% CI, 79.4% to 88.6%; P < .001), respectively, in the predecessor NWTS-5 study. Conclusion Excellent OS was achieved after omission of primary lung RT in patients with lung nodule CR, although there were more events than expected. EFS was significantly improved, with excellent OS, in patients with lung nodule IR using four cycles of cyclophosphamide/etoposide in addition to DD4A drugs. The overall AREN0533 treatment strategy yielded EFS and OS estimates that were superior to previous studies.

scholarly journals Paediatric Cancer Predisposition Documentation Tool – Standardized Reporting Form for Children and Adolescents With Suspected Cancer Predisposition Syndrome

2021 ◽  
Author(s):  
Ines B. Brecht ◽  
Juliane Hoyer ◽  
Tim Ripperger ◽  
Axel Karow ◽  
Arndt Borkhardt ◽  
...  
Keyword(s):  
Clinical Features ◽  
Cancer Predisposition ◽  
Genetic Diagnostics ◽  
Phenotypic Characterization ◽  
Tumor Type ◽  
Paediatric Cancer ◽  
Automated Recognition ◽  
Cancer Predisposition Syndrome ◽  
Standardized Reporting ◽  
Documentation Tool

Abstract More comprehensive genetic diagnostics in children with cancer, enabled by modern sequencing techniques have shown that germline variants causing genetic cancer predisposition can be detected in an increasing proportion of patients. Many individuals carrying a predisposing germline variant exhibit distinct characteristics regarding family history, tumor type, age at manifestation and therapy toxicity. However, comprehensive phenotypic characterization and automated electronic documentation in searchable databases are essential to fully integrate genetic and clinical features. Therefore, we have developed a structured Paediatric Cancer Predisposition Tool – PERCEPT to facilitate more accurate documentation of even subtle clinical features of patients with or with suspected germline cancer predisposition or suspected germline cancer predisposition. It improves the comparability in multicentre studies and the automated recognition of phenotypic patterns in international searchable databases.

scholarly journals Wilms Tumor 1 Mutations Are Independent Poor Prognostic Factors in Pediatric Acute Myeloid Leukemia

2021 ◽  
Vol 11 ◽  
Author(s):  
Yin Wang ◽  
Wen-Jun Weng ◽  
Dun-Hua Zhou ◽  
Jian-Pei Fang ◽  
Srishti Mishra ◽  
...  
Keyword(s):  
Overall Survival ◽  
Acute Myeloid Leukemia ◽  
Prognostic Factors ◽  
Myeloid Leukemia ◽  
Wilms Tumor ◽  
Event Free Survival ◽  
Free Survival ◽  
Wilms Tumor 1 ◽  
Pediatric Aml ◽  
Acute Myeloid

The prognostic impact of Wilms tumor 1 (WT1) mutations remains controversial for patients with acute myeloid leukemia (AML). Here, we aimed to determine the clinical implication of WT1 mutations in a large cohort of pediatric AML. The clinical data of 870 pediatric patients with AML were downloaded from the therapeutically applicable research to generate effective treatment (TARGET) dataset. We analyzed the prevalence, clinical profile, and prognosis of AML patients with WT1 mutations in this cohort. Our results showed that 6.7% of total patients harbored WT1 mutations. These WT1 mutations were closely associated with normal cytogenetics (P&lt;0.001), FMS-like tyrosine kinase 3/internal tandem duplication (FLT3/ITD) mutations (P&lt;0.001), and low complete remission induction rates (P&lt;0.01). Compared to the patients without WT1 mutations, patients with WT1 mutations had a worse 5-year event-free survival (21.7 ± 5.5% vs 48.9 ± 1.8%, P&lt;0.001) and a worse overall survival (41.4 ± 6.6% vs 64.3 ± 1.7%, P&lt;0.001). Moreover, patients with both WT1 and FLT3/ITD mutations had a dismal prognosis. Compared to chemotherapy alone, hematopoietic stem cell transplantation tended to improve the prognoses of WT1-mutated patients. Multivariate analysis demonstrated that WT1 mutations conferred an independent adverse impact on event-free survival (hazard ratio 1.910, P = 0.001) and overall survival (hazard ratio 1.709, P = 0.020). In conclusion, our findings have demonstrated that WT1 mutations are independent poor prognostic factors in pediatric AML.

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