Article ; Online: "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".
European journal of medical genetics
2022 Volume 65, Issue 11, Page(s) 104600
Abstract: Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders ... ...
Abstract | Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry by 2021. Pathogenic variants of ARID1A account for 7-8% of cases with CSS phenotype. Malignancy has been previously reported in six individuals with CSS associated with BAF mutations. Two of these malignancies including one acute lymphoid leukemia and one hepatoblastoma were reported in ARID1A-associated CSS (ARID1A-CSS). Alterations in ARID1A are among the most common molecular aberrations in human cancer. Somatic deletion of 1p and specifically of 1p36.11 containing ARID1A is frequently seen in hepatoblastoma and has been associated with high-risk features. Here we report a child with CSS Phenotype and a novel de novo variant of ARID1A with hepatoblastoma. Because hepatoblastoma has an incidence of 1 per million children, the presence of hepatoblastoma in 2 of 30 known cases of ARID1A-CSS is significant. ARID1A-CSS should be included among the cancer predisposition syndromes associated with an increased risk of hepatoblastoma and tumour surveillance considered for these patients. The role of ARID1A in the pathogenesis and outcome of hepatoblastoma deserves further investigation. |
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MeSH term(s) | Abnormalities, Multiple ; Child ; DNA-Binding Proteins/genetics ; Face/abnormalities ; Hand Deformities, Congenital/genetics ; Hepatoblastoma/complications ; Hepatoblastoma/genetics ; Humans ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Liver Neoplasms/complications ; Liver Neoplasms/genetics ; Micrognathism/genetics ; Neck/abnormalities ; Transcription Factors/genetics |
Chemical Substances | ARID1A protein, human ; DNA-Binding Proteins ; Transcription Factors |
Language | English |
Publishing date | 2022-08-29 |
Publishing country | Netherlands |
Document type | Journal Article ; Review |
ZDB-ID | 2184135-4 |
ISSN | 1878-0849 ; 1769-7212 |
ISSN (online) | 1878-0849 |
ISSN | 1769-7212 |
DOI | 10.1016/j.ejmg.2022.104600 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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