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It is caused by pathogenic variants in <jats:italic>AMER1<\/jats:italic>, a tumor suppressor and a WNT signaling repressor gene with key roles in tissue regeneration, neurodevelopment, tumorigenesis, and other developmental processes. While somatic <jats:italic>AMER1<\/jats:italic> pathogenic variants have frequently been identified in several tumor types (e.g., Wilms tumor and colorectal cancer), whether OSCS (i.e., with <jats:italic>AMER1<\/jats:italic> germline variants) is a tumor predisposition syndrome is not clear, with only nine cases reported with tumors. We here report the first case of neuroblastoma diagnosed in a male child with OSCS, review all previously reported tumors diagnosed in individuals with OSCS, and discuss potential tumorigenic mechanisms of AMER1. Our report adds to the accumulating evidence suggesting OSCS is a tumor predisposition condition, highlighting the importance of maintaining a high index of suspicion for the associated tumors when evaluating patients with OSCS. Importantly, Wilms tumor stands out as the most commonly observed tumor in OSCS patients, underscoring the need for regular surveillance.<\/jats:p>","DOI":"10.1002\/ajmg.a.63709","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T12:09:34Z","timestamp":1716811774000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in <scp>OSCS<\/scp>"],"prefix":"10.1002","volume":"194","author":[{"given":"Aya","family":"Abu\u2010El\u2010Haija","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital  Boston USA"},{"name":"Harvard Medical School  Boston USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6383-5417","authenticated-orcid":false,"given":"Kyle","family":"Dillahunt","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, University of Iowa  Iowa City USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Safina","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, University of Iowa  Iowa City USA"},{"name":"Department of Pediatrics, UI Stead Family Children's Hospital  Iowa City USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8131-1083","authenticated-orcid":false,"given":"Abdulrahman","family":"Aldeeri","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital  Boston USA"},{"name":"Harvard Medical School  Boston USA"},{"name":"Department of Internal Medicine, King Saud University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomislav","family":"Glavan","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Biotechnology University of Rijeka  Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivana","family":"Mihalek","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Biotechnology University of Rijeka  Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine  St. Louis USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,27]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"AMER1\u2014APC membrane recruitment protein 1\u2014Homo sapiens (Human). 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