• Avi Saskin, Leanne de Kock, Nelly Sabbaghian, Maria Apellaniz-Ruiz, Ceyhun Bozkurt, Dorothée Bouron-Dal Soglio, and William D Foulkes.
• Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
• Pediatr Blood Cancer. 2018 Jan 1; 65 (1).

AbstractDICER1 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.© 2017 Wiley Periodicals, Inc.

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