Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS

Aya Abu-El-Haija; Kyle Dillahunt; Nicole Safina; Abdulrahman Aldeeri; Tomislav Glavan; Ivana Mihalek; Marwan Shinawi

doi:10.1002/ajmg.a.63709

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Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS

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Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS

Aya Abu-El-Haija, Kyle Dillahunt, Nicole Safina, Abdulrahman Aldeeri, Tomislav Glavan, Ivana Mihalek and Marwan Shinawi

American journal of medical genetics. Part A, Vol.194(10), e63709

05/27/2024

DOI: 10.1002/ajmg.a.63709

PMID: 38801192

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Abstract

Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic condition primarily characterized by metaphyseal striations of long bones, bone sclerosis, macrocephaly, and other congenital anomalies. It is caused by pathogenic variants in AMER1, a tumor suppressor and a WNT signaling repressor gene with key roles in tissue regeneration, neurodevelopment, tumorigenesis, and other developmental processes. While somatic AMER1 pathogenic variants have frequently been identified in several tumor types (e.g., Wilms tumor and colorectal cancer), whether OSCS (i.e., with AMER1 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.

AMER1

OSCS

Wilms tumor

neuroblastoma

cancer predisposition

Details

Title: Subtitle: Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
Creators: Aya Abu-El-Haija - Harvard Medical School
Kyle Dillahunt - Division of Medical Genetics and Genomics, Department of Pediatrics, University of Iowa, Iowa City, USA
Nicole Safina - Department of Pediatrics, UI Stead Family Children's Hospital, Iowa City, USA
Abdulrahman Aldeeri - King Saud University
Tomislav Glavan - University of Rijeka
Ivana Mihalek - University of Rijeka
Marwan Shinawi - Washington University in St. Louis School of Medicine
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.194(10), e63709
DOI: 10.1002/ajmg.a.63709
PMID: 38801192
NLM abbreviation: Am J Med Genet A
eISSN: 1552-4833
Language: English
Electronic publication date: 05/27/2024
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984630597402771

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