Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome
Abstract
BACKGROUND: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predisposition to developing osteosarcoma among an international cohort of RTS patients was associated with a distinctive pattern of mutations in the RECQL4 gene. METHODS: We obtained clinical information about and biologic samples from 33 RTS patients (age range = 1-30 years). Eleven patients were diagnosed with osteosarcoma. All 21 exons and 13 short introns of the RECQL4 gene were sequenced from the genomic DNA of all subjects. Kaplan-Meier survival analysis was used to estimate the incidence of osteosarcoma among patients with and without mutations predicted to produce a truncated RECQL4 protein. RESULTS: Twenty-three RTS patients, including all 11 osteosarcoma patients, carried at least one of 19 truncating mutations in their RECQL4 genes. The incidence of osteosarcoma was 0.00 per year in truncating mutation-negative patients (100 person-years of observation) and 0.05 per year in truncating mutation-positive patients (230 person-years of observation) (P =.037; two-sided log-rank test). CONCLUSIONS: Mutations predicted to result in the loss of RECQL4 protein function occurred in approximately two-thirds of RTS patients and are associated with risk of osteosarcoma. Molecular diagnosis has the potential to identify those children with RTS who are at high risk of this cancer.
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Cancer predisposition syndromes considered risk factors for osteosarcoma include Li-Fraumeni syndrome, hereditary retinoblastoma, Diamond-Blackfan anaemia, and RECQ-family DNA helicase disorders such as Rothmund-Thomson, RAPADILINO, Bloom and Werner syndromes.
“A growing number of cancer predisposition syndromes are considered risk factors for the development of osteosarcoma, including Li-Fraumeni syndrome, hereditary retinoblastoma and Diamond-Blackfan anaemia as well as primary DNA helicase disorders involving the RECQ family of genes, including Rothmund-Thomson syndrome, RAPADILINO syndrome, Bloom syndrome and Werner syndrome 19,20,21”
From Osteosarcoma (2022) · cites this paper as [20]
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- Authors
- Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., Lev, D., Rogers, M., Zackai, E. H., & Plon, S. E.
- Affiliations
- Baylor College of Medicine (US)
- Universidad Nacional Autónoma de México (MX)
- University of Arizona (US)
- Wolfson Medical Center (IL)
- The University of Sydney (AU)
- Corresponding author
- Wang, L. L.
- ORCID
- Venue
- JNCI Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-05-07
- Volume
- 95
- Issue
- 9
- Pages
- 669-674
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2143090029
- Cited by
- 338
- References
- 21
- Citations by year
- 2026: 14 · 2025: 13 · 2024: 8 · 2023: 13 · 2022: 12 · 2021: 22 · 2020: 20 · 2019: 12 · 2018: 14 · 2017: 14 · 2016: 14 · 2015: 16 · 2014: 20 · 2013: 6 · 2012: 17
- FWCI
- 11.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JNCI Journal of the National Cancer Institute (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 24064, K12HD041648, P30HD024064, K08HD042136, K08 HD42136-01, K12 HD41648-01)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- Rothmund-Thomson syndrome, osteosarcoma, truncating mutations, cancer susceptibility, poikiloderma, molecular diagnosis, cancer risk prediction, childhood cancer
- MeSH terms
- Adenosine Triphosphatases, Adolescent, Adult, Alleles, Bone Neoplasms, Child, Child, Preschool, DNA Helicases, Female, Humans, Infant, Male, Mutation, Rothmund-Thomson Syndrome, Osteosarcoma, Blotting, Southern, Incidence, Sequence Analysis, DNA, DNA, Complementary, Genetic Predisposition to Disease, RecQ Helicases
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