Eggermann, Thomas, Maher, Eamonn R., Kratz, Christian P. and Prawitt, Dirk (2022). Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice. Cancers, 14 (13),
Abstract
Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is a congenital imprinting condition with a heterogenous clinical presentation of overgrowth and an increased childhood cancer risk (mainly nephroblastoma, hepatoblastoma or neuroblastoma). Due to the varying clinical presentation encompassing classical, clinical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly, the syndromic entity was extended to the Beckwith-Wiedemann spectrum (BWSp). The tumor risk of up to 30% depends on the molecular subtype of BWSp with causative genetic or epigenetic alterations in the chromosomal region 11p15.5. The molecular diagnosis of BWSp can be challenging for several reasons, including the range of causative molecular mechanisms which are frequently mosaic. The molecular basis of tumor formation appears to relate to stalled cellular differentiation in certain organs that predisposes persisting embryonic cells to accumulate additional molecular defects, which then results in a range of embryonal tumors. The molecular subtype of BWSp not only influences the overall risk of neoplasia, but also the likelihood of specific embryonal tumors.
Publication DOI: | https://doi.org/10.3390/cancers14133083 |
---|---|
Divisions: | College of Health & Life Sciences > Aston Medical School |
Additional Information: | Copyright © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
Uncontrolled Keywords: | Beckwith-Wiedemann syndrom spectrum,tumor,genomic imprinting |
Publication ISSN: | 2072-6694 |
Last Modified: | 06 Aug 2024 09:58 |
Date Deposited: | 04 Jan 2024 15:32 |
Full Text Link: | |
Related URLs: |
https://www.mdp ... 6694/14/13/3083
(Publisher URL) |
PURE Output Type: | Review article |
Published Date: | 2022-07 |
Published Online Date: | 2022-06-23 |
Accepted Date: | 2022-06-20 |
Authors: |
Eggermann, Thomas
Maher, Eamonn R. Kratz, Christian P. Prawitt, Dirk |