Wilms tumor in patients with osteopathia striata with cranial sclerosis.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
02
06
2020
accepted:
21
08
2020
revised:
12
08
2020
pubmed:
4
9
2020
medline:
15
1
2022
entrez:
4
9
2020
Statut:
ppublish
Résumé
Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in neoplastic tissue in 15-30% of patients with Wilms tumor; however, to date, only one individual with OSCS has been reported with a Wilms tumor. Here we present four cases of Wilms tumor in unrelated individuals with OSCS, including the single previously published case. We also report the first case of bilateral Wilms tumor in a patient with OSCS. Tumor tissue analysis showed no clear pattern of histological subtypes. In Beckwith-Wiedemann syndrome, which has a known predisposition to Wilms tumor development, clinical protocols have been developed for tumor surveillance. In the absence of further evidence, we propose a similar protocol for patients with OSCS to be instituted as an initial precautionary approach to tumor surveillance. Further evidence is needed to refine this protocol and to evaluate the possibility of development of other neoplasms later in life, in patients with OSCS.
Identifiants
pubmed: 32879452
doi: 10.1038/s41431-020-00718-4
pii: 10.1038/s41431-020-00718-4
pmc: PMC7940487
doi:
Substances chimiques
AMER1 protein, human
0
Adaptor Proteins, Signal Transducing
0
Tumor Suppressor Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
396-401Commentaires et corrections
Type : CommentIn
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