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DOI: 10.1055/s-0033-1337976
DICER1 Syndrome: A New Cancer Syndrome
A Natural History StudyDas DICER1 Syndrom: Ein neues KrebssyndromNotwendigkeit einer BeobachtungsstudiePublication History
Publication Date:
26 April 2013 (online)
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Abstract
Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor and others. The DICER1 gene encodes an enzyme that is involved in the biogenesis of microRNAs. The entire tumor spectrum and the respective tumor risks are unknown. We are in the process of launching a natural history study aimed at identifying more information on this new cancer syndrome.
Zusammenfassung
Kürzlich wurden DICER1 Keimbahnmutationen bei Patienten mit seltenen Neoplasien entdeckt. Diese Beobachtung deutete auf die Existenz eines zuvor nicht bekannten Tumor-Prädispositionssyndroms hin. Zuerst wurden DICER1 Mutationen bei Patienten mit familiärem pleuropulmonalem Blastom entdeckt. Bis heute sind weitere Manifestationen des Syndroms beschrieben worden, einschließlich zystisches Nephrom, Medulloepitheliom, Sertoli-Leydig-Zell-Tumor und andere. Das DICER1 Gen kodiert für ein Enzym, welches an der Biogenese von MikroRNAs maßgeblich beteiligt ist. Das genaue Tumorspektrum sowie das Tumorrisiko sind nicht bekannt. Wir planen eine Registerstudie, um mehr Informationen über dieses neue Krebssyndrom zu erlangen.
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