Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paterna...
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Wiley
2021
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oai:doaj.org-article:fc40ee2cb6c545c19d90a77e319e55ec2021-11-10T16:39:24ZBeckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature2324-926910.1002/mgg3.1796https://doaj.org/article/fc40ee2cb6c545c19d90a77e319e55ec2021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1796https://doaj.org/toc/2324-9269Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1. Methods Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype‐phenotype correlations. The clinical diagnosis was based on the criteria defined by the international expert consensus of BWS. Molecular study of 11p15.5 methylation status was assessed using methylation‐specific‐multiplex ligation probe amplification (MS‐MLPA). Results Patients were aged 12 months and 3 months and fulfilled the clinical score of BWS. MS‐MLPA showed molecular alterations consisting of loss of methylation in IC2 (IC2‐LOM) at the maternal allele for one patient and a mosaic UPD(11)pat for the second patient in whom follow‐up at 6months revealed adrenocortical carcinoma (ACC) with low grade of malignancy. Molecular subtypes guide the follow‐up and tumor surveillance, our major concern. Conclusion We have to take into account the psychological impact of a possible tumor whatever the underlying mechanism is. Nevertheless, the tumor risk remains high for UPD(11)pat. Our study extended the phenotype of BWS with absence of macrosomia in Tunisian patients, contrasting with literature, and added a supplementary case of ACC in the tumor spectrum of BWS patients with UPD(11)pat.Hela SassiYasmina ElaribiHouweyda JilaniImen RejebSyrine HizemMolka SebaiNadia KasdallahHabib BouthourSamia HannachiJasmin BeygoAli SaadKarin BuitingDorra H’mida Ben‐BrahimLamia BenJemaaWileyarticleadrenocortical tumorsBeckwith–Wiedemann syndromecorrelationepigeneticgenomic imprintingGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
adrenocortical tumors Beckwith–Wiedemann syndrome correlation epigenetic genomic imprinting Genetics QH426-470 |
| spellingShingle |
adrenocortical tumors Beckwith–Wiedemann syndrome correlation epigenetic genomic imprinting Genetics QH426-470 Hela Sassi Yasmina Elaribi Houweyda Jilani Imen Rejeb Syrine Hizem Molka Sebai Nadia Kasdallah Habib Bouthour Samia Hannachi Jasmin Beygo Ali Saad Karin Buiting Dorra H’mida Ben‐Brahim Lamia BenJemaa Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature |
| description |
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1. Methods Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype‐phenotype correlations. The clinical diagnosis was based on the criteria defined by the international expert consensus of BWS. Molecular study of 11p15.5 methylation status was assessed using methylation‐specific‐multiplex ligation probe amplification (MS‐MLPA). Results Patients were aged 12 months and 3 months and fulfilled the clinical score of BWS. MS‐MLPA showed molecular alterations consisting of loss of methylation in IC2 (IC2‐LOM) at the maternal allele for one patient and a mosaic UPD(11)pat for the second patient in whom follow‐up at 6months revealed adrenocortical carcinoma (ACC) with low grade of malignancy. Molecular subtypes guide the follow‐up and tumor surveillance, our major concern. Conclusion We have to take into account the psychological impact of a possible tumor whatever the underlying mechanism is. Nevertheless, the tumor risk remains high for UPD(11)pat. Our study extended the phenotype of BWS with absence of macrosomia in Tunisian patients, contrasting with literature, and added a supplementary case of ACC in the tumor spectrum of BWS patients with UPD(11)pat. |
| format |
article |
| author |
Hela Sassi Yasmina Elaribi Houweyda Jilani Imen Rejeb Syrine Hizem Molka Sebai Nadia Kasdallah Habib Bouthour Samia Hannachi Jasmin Beygo Ali Saad Karin Buiting Dorra H’mida Ben‐Brahim Lamia BenJemaa |
| author_facet |
Hela Sassi Yasmina Elaribi Houweyda Jilani Imen Rejeb Syrine Hizem Molka Sebai Nadia Kasdallah Habib Bouthour Samia Hannachi Jasmin Beygo Ali Saad Karin Buiting Dorra H’mida Ben‐Brahim Lamia BenJemaa |
| author_sort |
Hela Sassi |
| title |
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature |
| title_short |
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature |
| title_full |
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature |
| title_fullStr |
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature |
| title_full_unstemmed |
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature |
| title_sort |
beckwith–wiedemann syndrome: clinical, histopathological and molecular study of two tunisian patients and review of literature |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/fc40ee2cb6c545c19d90a77e319e55ec |
| work_keys_str_mv |
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| _version_ |
1718439941173673985 |