Please use this identifier to cite or link to this item: doi:10.22028/D291-33559
Title: Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature
Author(s): van Peer, Sophie E.
Pleijte, Corine J. H.
de Krijger, Ronald R.
Jongmans, Marjolijn C. J.
Kuiper, Roland P.
Lilien, Marc R.
van Grotel, Martine
Graf, Norbert
van den Heuvel-Eibrink, Marry M.
Hol, Janna A.
Language: English
Title: Cancers
Volume: 13
Issue: 5
Publisher/Platform: MDPI
Year of Publication: 2021
Free key words: cystic partially differentiated nephroblastoma
cystic nephroma
renal tumor
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: In children presenting with a predominantly cystic renal tumor, the most likely diagnoses include cystic partially differentiated nephroblastoma (CPDN) and cystic nephroma (CN). Both entities are rare and limited information on the clinical and molecular characteristics, treatment, and outcome is available since large cohort studies are lacking. We performed an extensive literature review, in which we identified 113 CPDN and 167 CN. The median age at presentation for CPDN and CN was 12 months (range: 3 weeks–4 years) and 16 months (prenatal diagnosis–16 years), respectively. No patients presented with metastatic disease. Bilateral disease occurred in both entities. Surgery was the main treatment for both. Two/113 CPDN patients and 26/167 CN patients had previous, concomitant, or subsequent other tumors. Unlike CPDN, CN was strongly associated with somatic (n = 27/29) and germline (n = 12/12) DICER1-mutations. Four CPDN patients and one CN patient relapsed. Death was reported in six/103 patients with CPDN and six/118 CN patients, none directly due to disease. In conclusion, children with CPDN and CN are young, do not present with metastases, and have an excellent outcome. Awareness of concomitant or subsequent tumors and genetic testing is important. International registration of cystic renal tumor cohorts is required to enable a better understanding of clinical and genetic characteristics.
DOI of the first publication: 10.3390/cancers13050997
Link to this record: urn:nbn:de:bsz:291--ds-335596
ISSN: 2072-6694
Date of registration: 15-Mar-2021
Description of the related object: Supplementary Materials
Related object:
Faculty: M - Medizinische Fakultät
Department: M - Pädiatrie
Professorship: M - Prof. Dr. Norbert Graf
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

Files for this record:
File Description SizeFormat 
cancers-13-00997.pdf455,53 kBAdobe PDFView/Open

This item is licensed under a Creative Commons License Creative Commons