Benign and malignant tumors in Rubinstein–Taybi syndrome

Max V. Boot, Martine J. van Belzen, Lucy I. Overbeek, Nathalie Hijmering, Matias Mendeville, Quinten Waisfisz, Pieter Wesseling, Raoul C. Hennekam, Daphne de Jong

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

42 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)597-608
Aantal pagina's12
TijdschriftAmerican Journal of Medical Genetics
Volume176
Nummer van het tijdschrift3
DOI's
StatusGepubliceerd - mrt. 2018

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