A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye?
Child, Preschool
DEAD-box RNA Helicases
/ genetics
Genetic Predisposition to Disease
/ genetics
Germ-Line Mutation
Humans
Kidney Diseases, Cystic
/ diagnostic imaging
Kidney Neoplasms
/ diagnostic imaging
Lung Neoplasms
/ diagnostic imaging
Male
Pneumothorax
/ complications
Pulmonary Blastoma
/ diagnostic imaging
Ribonuclease III
/ genetics
Syndrome
Tomography, X-Ray Computed
Journal
Urology
ISSN: 1527-9995
Titre abrégé: Urology
Pays: United States
ID NLM: 0366151
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
19
01
2021
accepted:
31
01
2021
pubmed:
12
2
2021
medline:
1
3
2022
entrez:
11
2
2021
Statut:
ppublish
Résumé
DICER1 syndrome is a rare hereditary cancer predisposition syndrome that has relevance to pediatric urology providers due to its association with many various pediatric genitourinary malignancies. We describe the case of a pediatric patient who was eventually diagnosed with a pathogenic DICER1 germline variant after undergoing resection of a cystic nephroma and pleuropulmonary blastoma.
Identifiants
pubmed: 33571543
pii: S0090-4295(21)00158-8
doi: 10.1016/j.urology.2021.01.049
pii:
doi:
Substances chimiques
DICER1 protein, human
EC 3.1.26.3
Ribonuclease III
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
275-277Informations de copyright
Copyright © 2021 Elsevier Inc. All rights reserved.