Is polycystic kidney disease associated with malignancy in children?
genetic predisposition
genetic sequencing
malignancy
polycystic kidney disease
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
26
11
2018
revised:
18
03
2019
accepted:
08
04
2019
pubmed:
15
6
2019
medline:
19
6
2020
entrez:
15
6
2019
Statut:
ppublish
Résumé
Polycystic kidney disease (PKD) is an inherited condition characterized by progressive development of end-stage renal disease, hypertension, hepatic fibrosis, and cysts in the kidney, liver, pancreas, spleen, thyroid, and epididymis. While malignancies have been reported in association with PKD in adults, the incidence of malignancies in children with PKD is not currently known. We report on five patients with a known history of PKD who developed a malignancy as children at the University of California, Los Angeles and the University of Colorado Anschutz Medical Campus. Patients were included from 2012 to 2017. We present five patients with a history of PKD diagnosed with a malignancy during childhood without any additional known mutations to suggest a genetic predisposition to develop cancer. This includes the first reported case of hepatocellular carcinoma in a patient with autosomal recessive polycystic kidney disease. Our report illustrates the potential that PKD may be associated with an increased risk for developing cancer, even in children. Further research is necessary to better understand this relationship.
Sections du résumé
BACKGROUND
Polycystic kidney disease (PKD) is an inherited condition characterized by progressive development of end-stage renal disease, hypertension, hepatic fibrosis, and cysts in the kidney, liver, pancreas, spleen, thyroid, and epididymis. While malignancies have been reported in association with PKD in adults, the incidence of malignancies in children with PKD is not currently known.
METHODS
We report on five patients with a known history of PKD who developed a malignancy as children at the University of California, Los Angeles and the University of Colorado Anschutz Medical Campus. Patients were included from 2012 to 2017.
RESULTS
We present five patients with a history of PKD diagnosed with a malignancy during childhood without any additional known mutations to suggest a genetic predisposition to develop cancer. This includes the first reported case of hepatocellular carcinoma in a patient with autosomal recessive polycystic kidney disease.
CONCLUSION
Our report illustrates the potential that PKD may be associated with an increased risk for developing cancer, even in children. Further research is necessary to better understand this relationship.
Identifiants
pubmed: 31197971
doi: 10.1002/mgg3.725
pmc: PMC6625336
doi:
Substances chimiques
PKHD1 protein, human
0
Receptors, Cell Surface
0
TRPP Cation Channels
0
polycystic kidney disease 1 protein
0
polycystic kidney disease 2 protein
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e00725Informations de copyright
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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