Please use this identifier to cite or link to this item: doi:10.22028/D291-34830
Title: Characteristics of Nephroblastoma/Nephroblastomatosis in Children with a Clinically Reported Underlying Malformation or Cancer Predisposition Syndrome
Author(s): Welter, Nils
Wagner, Angelo
Furtwängler, Rhoikos
Melchior, Patrick
Kager, Leo
Vokuhl, Christian
Schenk, Jens-Peter
Meier, Clemens Magnus
Siemer, Stefan
Gessler, Manfred
Graf, Norbert
Language: English
Title: Cancers
Volume: 13
Issue: 19
Publisher/Platform: MDPI
Year of Publication: 2021
Free key words: nephroblastoma
clinical malformations
cancer predisposition syndromes
tumor surveillance
outcome
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: (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.
DOI of the first publication: 10.3390/cancers13195016
Link to this record: urn:nbn:de:bsz:291--ds-348300
hdl:20.500.11880/31844
http://dx.doi.org/10.22028/D291-34830
ISSN: 2072-6694
Date of registration: 13-Oct-2021
Description of the related object: Supplementary Materials
Related object: https://www.mdpi.com/article/10.3390/cancers13195016/s1
Faculty: M - Medizinische Fakultät
Department: M - Chirurgie
M - Pädiatrie
M - Radiologie
M - Urologie und Kinderurologie
Professorship: M - Prof. Dr. Norbert Graf
M - Keiner Professur zugeordnet
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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