PMID- 33028642
OWN - NLM
STAT- MEDLINE
DCOM- 20210604
LR  - 20210604
IS  - 2373-2873 (Electronic)
IS  - 2373-2873 (Linking)
VI  - 6
IP  - 5
DP  - 2020 Oct
TI  - DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with 
      an EWSR1 rearrangement in a 16-yr-old female.
LID - 10.1101/mcs.a005603 [doi]
LID - a005603
AB  - We report a case of a DICER1-associated EWSR1-rearranged malignant primitive 
      neuroectodermal tumor (PNET) arising in a patient with DICER1 tumor 
      predisposition syndrome. A 16-yr-old female with a history of multinodular goiter 
      presented with a widely metastatic abdominal small round blue cell tumor with 
      neuroectodermal differentiation. EWSR1 gene rearrangement was identified in the 
      tumor by fluorescence in situ hybridization (FISH). Genetic analysis revealed 
      biallelic pathogenic DICER1 variation. The patient was treated with an aggressive 
      course of chemotherapy, surgery, and radiation with complete pathologic response. 
      We believe this case to represent a new expression of the DICER1 tumor 
      predisposition syndrome, an entity caused by deleterious germline mutations in 
      the DICER1 gene, encoding a ribonuclease active in the processing of miRNA. 
      Patients with germline mutations in DICER1 develop a diverse group of benign and 
      malignant tumors. Some of these tumors have been noted to have immature 
      neuroepithelium as a component, including the ciliary body medulloepithelioma and 
      the recently described DICER1-associated presacral malignant teratoid neoplasm. 
      To our knowledge, abdominal sarcomas that resemble PNET histology with an EWSR1 
      rearrangement have not previously been described as a classical expression of the 
      DICER1 syndrome phenotype.
CI  - (c) 2020 Pancaldi et al.; Published by Cold Spring Harbor Laboratory Press.
FAU - Pancaldi, Alessia
AU  - Pancaldi A
AD  - Post Graduate School of Pediatrics, Department of Medical and Surgical Sciences 
      of the Mothers, Children and Adults, University of Modena and Reggio Emilia, 
      41124 Modena, Italy.
FAU - Peng, Lei
AU  - Peng L
AD  - Division of Pediatric Oncology, The Sidney Kimmel Comprehensive Cancer Center at 
      Johns Hopkins, Baltimore, Maryland 21231, USA.
FAU - Rhee, Daniel S
AU  - Rhee DS
AD  - Division of Pediatric Oncology, The Sidney Kimmel Comprehensive Cancer Center at 
      Johns Hopkins, Baltimore, Maryland 21231, USA.
AD  - Division of Pediatric Surgery, Department of Surgery, Johns Hopkins University 
      School of Medicine, Baltimore, Maryland 21205, USA.
FAU - Dunn, Emily
AU  - Dunn E
AD  - Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and 
      Radiological Science, Johns Hopkins University School of Medicine, Baltimore, 
      Maryland 21205, USA.
FAU - Forcucci, Jessica A
AU  - Forcucci JA
AD  - Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland 21287, 
      USA.
FAU - Belchis, Deborah
AU  - Belchis D
AD  - Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland 21287, 
      USA.
AD  - Doctor's Community Hospital, Lanham, Maryland 20706, USA.
FAU - Pratilas, Christine A
AU  - Pratilas CA
AD  - Division of Pediatric Oncology, The Sidney Kimmel Comprehensive Cancer Center at 
      Johns Hopkins, Baltimore, Maryland 21231, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20201007
PL  - United States
TA  - Cold Spring Harb Mol Case Stud
JT  - Cold Spring Harbor molecular case studies
JID - 101660017
RN  - 0 (EWSR1 protein, human)
RN  - 0 (RNA-Binding Protein EWS)
RN  - EC 3.1.26.3 (DICER1 protein, human)
RN  - EC 3.1.26.3 (Ribonuclease III)
RN  - EC 3.6.4.13 (DEAD-box RNA Helicases)
SB  - IM
MH  - Adolescent
MH  - DEAD-box RNA Helicases/metabolism
MH  - Female
MH  - Gene Rearrangement/genetics
MH  - Germ-Line Mutation
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Neoplasm Metastasis/genetics
MH  - Neuroectodermal Tumors/*genetics/metabolism
MH  - RNA-Binding Protein EWS/*genetics/metabolism
MH  - Ribonuclease III/metabolism
MH  - Sarcoma, Ewing/genetics/metabolism
PMC - PMC7552927
OTO - NOTNLM
OT  - Ewing's sarcoma
OT  - multinodular goiter
OT  - neoplasm of the genitourinary tract
EDAT- 2020/10/09 06:00
MHDA- 2021/06/05 06:00
PMCR- 2020/10/01
CRDT- 2020/10/08 05:27
PHST- 2020/05/20 00:00 [received]
PHST- 2020/07/31 00:00 [accepted]
PHST- 2020/10/08 05:27 [entrez]
PHST- 2020/10/09 06:00 [pubmed]
PHST- 2021/06/05 06:00 [medline]
PHST- 2020/10/01 00:00 [pmc-release]
AID - mcs.a005603 [pii]
AID - 10.1101/mcs.a005603 [doi]
PST - epublish
SO  - Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):a005603. doi: 
      10.1101/mcs.a005603. Print 2020 Oct.