Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Milani, Donatella; Bonarrigo, Francesca Andrea; Menni, Francesca; Spaccini, Luigina; Gervasini, Cristina; Esposito, Susanna

doi:10.1002/pbc.25806

Cited by 6 publications

(2 citation statements)

References 11 publications

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“…These are primarily neural crest derived tumors (neuroblastoma, medulloblastoma, oligodendroglioma, meningioma, pheochromocytoma, rhabdomyosarcoma, leiomyosarcoma, seminoma, odontoma, choristoma, hepatoblastoma, and pilomatricoma). Cases of leukemia and non-Hodgkin’s lymphoma have been reported [ 75 , 76 , 77 , 78 , 79 , 80 ]. The incidence of malignancy in RSTS patients was initially estimated to be between 3% and 10% [ 10 ].…”

Section: Clinical Descriptionmentioning

confidence: 99%

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Van-Gils

Magdinier

Fergelot

et al. 2021

Genes

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The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently known to cause RSTS, CREBBP and EP300, mutated in around 55% and 8% of clinically diagnosed cases, respectively. To date, 500 pathogenic variants have been reported for the CREBBP gene and 118 for EP300. These two genes encode paralogs acting as lysine acetyltransferase involved in transcriptional regulation and chromatin remodeling with a key role in neuronal plasticity and cognition. Because of the clinical heterogeneity of this syndrome ranging from the typical clinical diagnosis to features overlapping with other Mendelian disorders of the epigenetic machinery, phenotype/genotype correlations remain difficult to establish. In this context, the deciphering of the patho-physiological process underlying these diseases and the definition of a specific episignature will likely improve the diagnostic efficiency but also open novel therapeutic perspectives. This review summarizes the current clinical and molecular knowledge and highlights the epigenetic regulation of RSTS as a model of chromatinopathy.

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Section: Clinical Descriptionmentioning

confidence: 99%

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Van-Gils

Magdinier

Fergelot

et al. 2021

Genes

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“…Different cancers have been reported in patients with RSTS, including hepatoblastoma, ovarian and endometrial carcinomas, NBL, medulloblastoma, meningioma, oligodendroglioma, pheochromocytoma, rhabdomyosarcoma, leiomyosarcoma, seminoma, and embryonal carcinoma. They may also develop benign tumors, such as odontoma, choristoma, dermoid cyst, and pilomatrixomas (73)(74)(75)(76)(77)(78)(79)(80)(81). Because of the unknown cancer risk, firm cancer surveillance recommendations cannot be made at this time, but prompt assessment of any new or persistent symptoms is warranted.…”

Section: Rubinstein-taybi Syndromementioning

confidence: 99%

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk

Villani

Greer

Kalish

et al. 2017

Clinical Cancer Research

138

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In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance. For all syndromes, the panel recommends increased awareness and prompt assessment of clinical symptoms. Patients with Costello syndrome have the highest cancer risk, and cancer surveillance should be considered. Regular physical examinations and complete blood counts can be performed in infants with Noonan syndrome if specific PTPN11 or KRAS mutations are present, and in patients with CBL syndrome. Also, the high brain tumor risk in patients with L-2 hydroxyglutaric aciduria may warrant regular screening with brain MRIs. For most syndromes, surveillance may be needed for nonmalignant health problems. Clin Cancer Res; 23(12); e83–e90. ©2017 AACR. See all articles in the online-only CCR Pediatric Oncology Series.

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Benign and malignant tumors in Rubinstein–Taybi syndrome

Boot

Belzen

Overbeek

et al. 2018

American J of Med Genetics Pt A

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Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population–based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of all RSTS individuals with tumors reported in the literature to date. Using the Nationwide Network and Registry of Histopathology and Cytopathology in the Netherlands (PALGA Foundation), 35 benign and malignant tumors were observed in 26/87 individuals. Meningiomas and pilomatricomas were the most frequent benign tumors and their incidence was significantly elevated in comparison to the general Dutch population. Five malignant tumors were observed in four persons with RSTS (medulloblastoma; diffuse large‐cell B‐cell lymphoma; breast cancer; non‐small cell lung carcinoma; colon carcinoma). No clear genotype–phenotype correlation became evident. The Dutch population‐based data and reported case studies underscore the increased incidence of meningiomas and pilomatricomas in individuals with RSTS. There is no supporting evidence for an increased risk for malignant tumors in individuals with RSTS, however, due to the small numbers this risk may not be fully dismissed.

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Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

Cited by 6 publications

References 11 publications

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk

Benign and malignant tumors in Rubinstein–Taybi syndrome

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