Coffin-Siris syndrome and cancer susceptibility
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor suppressors, the cancer risk in patients with CSS remains unclear. We analyzed cancer sequencing data sets, conducted a comprehensive literature review of patients with CSS diagnosed with malignancies, and examined a cohort of 376 CSS registry patients to estimate cancer frequency. A review of the literature identified several reports of patients with CSS diagnosed with a malignancy, with ARID1A being the most frequent causative gene and associated with hepatoblastoma in 3 cases. Although no cases of malignancy were reported among the patients in the CSS registry, only 26 patients with ARID1A-CSS were available for analysis. Combining these patients with all cases reported in the literature led to the estimate of hepatoblastoma prevalence in ARID1A-CSS of 3.6% (95% CI 0.79%-10.4%). Our findings suggest the hepatoblastoma risk among patients with ARID1A-CSS may exceed the established 1% risk threshold and therefore warrant surveillance. There remains insufficient evidence to support any other CSS gene-cancer association, emphasizing the need for further systematic study..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Genetics in Medicine Open - 1(2023), 1, Seite 100818- Zur Gesamtaufnahme - volume:1 |
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| Sprache: |
Englisch |
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| Beteiligte Personen: |
Nicholas A. Borja [VerfasserIn] |
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| Links: |
doi.org [kostenfrei] |
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| Themen: |
ARID1A |
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| doi: |
10.1016/j.gimo.2023.100818 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
DOAJ096272430 |
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| 520 | |a Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor suppressors, the cancer risk in patients with CSS remains unclear. We analyzed cancer sequencing data sets, conducted a comprehensive literature review of patients with CSS diagnosed with malignancies, and examined a cohort of 376 CSS registry patients to estimate cancer frequency. A review of the literature identified several reports of patients with CSS diagnosed with a malignancy, with ARID1A being the most frequent causative gene and associated with hepatoblastoma in 3 cases. Although no cases of malignancy were reported among the patients in the CSS registry, only 26 patients with ARID1A-CSS were available for analysis. Combining these patients with all cases reported in the literature led to the estimate of hepatoblastoma prevalence in ARID1A-CSS of 3.6% (95% CI 0.79%-10.4%). Our findings suggest the hepatoblastoma risk among patients with ARID1A-CSS may exceed the established 1% risk threshold and therefore warrant surveillance. There remains insufficient evidence to support any other CSS gene-cancer association, emphasizing the need for further systematic study. | ||
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