Wilms tumor in patients with osteopathia striata with cranial sclerosis

Alicia Bach, Jingyi Mi, Matthew Hunter, Benjamin J. Halliday, Sixto García-Miñaúr, Francesca Sperotto, Eva Trevisson, David Markie, Ian M. Morison, Marwan Shinawi, Daniel N. Willis, Stephen P. Robertson

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageEnglish
Pages (from-to)396-401
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number3
StatePublished - Mar 2021


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