“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”

Cárcamo, Benjamín; Masotto, Barbara; Baquero-Vaquer, Anna; Ceballos‐Sáenz, Delia; Zapata‐Aldana, Eugenio

doi:10.1016/j.ejmg.2022.104600

Cited by 5 publications

(2 citation statements)

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“…The association between Hemihypertrophy and Hepatoblastoma remains a concern for many scholars to find an early breakthrough in Hepatoblastoma treatment ( Rattan et al, 1995 ). Besides the above Hepatoblastoma-related genetic disorders, Simpson-Golabi-Behmel syndrome, trisomy 18 ( Nussbaumer and Benesch, 2022 ), and ARID1A Coffin-Siris syndrome ( Cárcamo et al, 2022 ) are also associated with Hepatoblastoma ( Figure 1 ).…”

Section: Genetics and Hepatoblastomamentioning

confidence: 99%

Epigenetics and genetics of hepatoblastoma: Linkage and treatment

et al. 2022

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Hepatoblastoma is a malignant embryonal tumor with multiple differentiation modes and is the clearest liver malignancy in children. However, little is known about genetic and epigenetic events in Hepatoblastoma. Increased research has recently demonstrated, unique genetic and epigenetic events in Hepatoblastoma, providing insights into its origin and precise treatment. Some genetic disorders and congenital factors are associated with the risk of Hepatoblastoma development, such as the Beckwith-Wiedemann syndrome, Familial Adenomatous polyposis, and Hemihypertrophy. Epigenetic modifications such as DNA modifications, histone modifications, and non-coding RNA regulation are also essential in the development of Hepatoblastoma. Herein, we reviewed genetic and epigenetic events in Hepatoblastoma, focusing on the relationship between these events and cancer susceptibility, tumor growth, and prognosis. By deciphering the genetic and epigenetic associations in Hepatoblastoma, tumor pathogenesis can be clarified, and guide the development of new anti-cancer drugs and prevention strategies.

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Section: Genetics and Hepatoblastomamentioning

confidence: 99%

Epigenetics and genetics of hepatoblastoma: Linkage and treatment

et al. 2022

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“…BAFopathies are a group of heterogeneous disorders that comprises various neurodevelopmental disorders, of which the most recognizable syndrome is the Coffin-Siris syndrome (CSS), a multisystemic pleiotropic involvement, characterized by intellectual disability and ectodermal abnormalities: sparse scalp hair, hypoplasia of fifth fingernails and/or fifth distal phalanges, and generalized hypertrichosis. [1][2][3] With a wide locus heterogeneity, involving the BAF complex de novo haploinsufficiency of ARID1B is the predominant cause of CSS. 2,3 Although numerous ectodermal abnormalities among CSS individuals are reported, pigmentation abnormalities have been reported in three individuals in the literature.…”

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confidence: 99%