Premium
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
Author(s) -
Saskin Avi,
Kock Leanne,
Sabbaghian Nelly,
ApellanizRuiz Maria,
Bozkurt Ceyhun,
BouronDal Soglio Dorothée,
Foulkes William D.
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26715
Subject(s) - medicine , germline , neuroblastoma , germline mutation , mutation , exon , somatic cell , causation , cancer research , blood cancer , genetics , gene , cancer , biology , political science , law , cell culture
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.