SynthesisAmerican journal of medical genetics. Part A2018
Benign and malignant tumors in Rubinstein-Taybi syndrome.
Synthesis in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- Cancer risks related to intellectual disabilities: A systematic review.Cancer medicine · 2024Pooled it
- Benign and malignant tumors in Rubinstein-Taybi syndrome.American journal of medical genetics. Part A · 2018Pooled it
- Article
- Case Report: Sequential treatment of growth hormone deficiency and central precocious puberty in a girl withFrontiers in pediatrics · 2026Article
- Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.Genes · 2025Article
- A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia.Molecular genetics & genomic medicine · 2025Article
- Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review.Journal of neuropathology and experimental neurology · 2025Review
- Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.BMC pediatrics · 2025Review
- Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- Review
- Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.Journal of medical genetics · 2024Review
- Chromatinopathies: insight in clinical aspects and underlying epigenetic changes.Journal of applied genetics · 2024Review
- [Cancer in people with an intellectual disability in Germany: prevalence, genetics, and care situation].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2024Review
- Domestic Animal Models of Central Nervous System Tumors: Focus on Meningiomas.Life (Basel, Switzerland) · 2023Review
- The tumor suppressor CREBBP and the oncogene MYCN cooperate to induce malignant brain tumors in mice.Oncogenesis · 2023Article
- Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.Frontiers in cell and developmental biology · 2022Review
- Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.Molecular genetics & genomic medicine · 2021Article
- CREB signaling activity correlates with differentiation and survival in medulloblastoma.Scientific reports · 2021Article
- Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.BMC pediatrics · 2021Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.