A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?. Issue 1 (2nd August 2017)

• Record Type: Journal Article
• Authors: Saskin, Avi; de Kock, Leanne; Sabbaghian, Nelly; Apellaniz‐Ruiz, Maria; Bozkurt, Ceyhun; Bouron‐Dal Soglio, Dorothée; Foulkes, William D.
• Is Part Of: Pediatric blood & cancer. Volume 65:Issue 1(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2017-08-02
• Subjects: cystic nephroma -- DICER1 -- multinodular goiter -- mutation -- neuroblastoma -- syndrome; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.26715
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: DICER1 syndrome is an inherited disorder associated with at least a dozen rare, mainly pediatric‐onset tumors. Its characterization remains incomplete. Some studies suggested that neuroblastoma (NB) may be involved in this syndrome. Here, we describe the case of a 14‐year‐old female presenting with a multinodular goiter (MNG) and a collision tumor composed of NB and cystic nephroma (CN). She is a carrier of a deleterious germline mutation in exon 23 of DICER1 and harbored different somatic mutations in the CN and MNG. However, no second hit was found in the NB, questioning its status as a DICER1‐related tumor.