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doi:10.22028/D291-34830
Titel: | Characteristics of Nephroblastoma/Nephroblastomatosis in Children with a Clinically Reported Underlying Malformation or Cancer Predisposition Syndrome |
VerfasserIn: | Welter, Nils Wagner, Angelo Furtwängler, Rhoikos Melchior, Patrick Kager, Leo Vokuhl, Christian Schenk, Jens-Peter Meier, Clemens Magnus Siemer, Stefan Gessler, Manfred Graf, Norbert |
Sprache: | Englisch |
Titel: | Cancers |
Bandnummer: | 13 |
Heft: | 19 |
Verlag/Plattform: | MDPI |
Erscheinungsjahr: | 2021 |
Freie Schlagwörter: | nephroblastoma clinical malformations cancer predisposition syndromes tumor surveillance outcome |
DDC-Sachgruppe: | 610 Medizin, Gesundheit |
Dokumenttyp: | Journalartikel / Zeitschriftenartikel |
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 der Erstveröffentlichung: | 10.3390/cancers13195016 |
Link zu diesem Datensatz: | urn:nbn:de:bsz:291--ds-348300 hdl:20.500.11880/31844 http://dx.doi.org/10.22028/D291-34830 |
ISSN: | 2072-6694 |
Datum des Eintrags: | 13-Okt-2021 |
Bezeichnung des in Beziehung stehenden Objekts: | Supplementary Materials |
In Beziehung stehendes Objekt: | https://www.mdpi.com/article/10.3390/cancers13195016/s1 |
Fakultät: | M - Medizinische Fakultät |
Fachrichtung: | M - Chirurgie M - Pädiatrie M - Radiologie M - Urologie und Kinderurologie |
Professur: | M - Prof. Dr. Norbert Graf M - Keiner Professur zugeordnet |
Sammlung: | SciDok - Der Wissenschaftsserver der Universität des Saarlandes |
Dateien zu diesem Datensatz:
Datei | Beschreibung | Größe | Format | |
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cancers-13-05016-v3.pdf | 1,48 MB | Adobe PDF | Öffnen/Anzeigen |
Diese Ressource wurde unter folgender Copyright-Bestimmung veröffentlicht: Lizenz von Creative Commons