Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-06-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/14/13/3083 |
| _version_ | 1797480718892269568 |
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| author | Thomas Eggermann Eamonn R. Maher Christian P. Kratz Dirk Prawitt |
| author_facet | Thomas Eggermann Eamonn R. Maher Christian P. Kratz Dirk Prawitt |
| author_sort | Thomas Eggermann |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T22:04:07Z |
| format | Article |
| id | doaj.art-01cacccfe83a4e8aa1ae99f80c4ce853 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-09T22:04:07Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-01cacccfe83a4e8aa1ae99f80c4ce8532023-11-23T19:44:08ZengMDPI AGCancers2072-66942022-06-011413308310.3390/cancers14133083Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical PracticeThomas Eggermann0Eamonn R. Maher1Christian P. Kratz2Dirk Prawitt3Institute of Human Genetics, Medical Faculty, RWTH Aachen, 52074 Aachen, GermanyDepartment of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UKPaediatric Haematology and Oncology, Hannover Medical School, 30625 Hannover, GermanyCenter for Paediatrics and Adolescent Medicine, University Medical Center, 55101 Mainz, GermanyBeckwith–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.https://www.mdpi.com/2072-6694/14/13/3083Beckwith–Wiedemann syndrome spectrumtumorgenomic imprinting |
| spellingShingle | Thomas Eggermann Eamonn R. Maher Christian P. Kratz Dirk Prawitt Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice Cancers Beckwith–Wiedemann syndrome spectrum tumor genomic imprinting |
| title | Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice |
| title_full | Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice |
| title_fullStr | Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice |
| title_full_unstemmed | Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice |
| title_short | Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice |
| title_sort | molecular basis of beckwith wiedemann syndrome spectrum with associated tumors and consequences for clinical practice |
| topic | Beckwith–Wiedemann syndrome spectrum tumor genomic imprinting |
| url | https://www.mdpi.com/2072-6694/14/13/3083 |
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