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Fetal Pediatr Pathol. 2019 Jan 11:1-13. doi: 10.1080/15513815.2018.1504842. [Epub ahead of print]

Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.

Author information

1
a Department of Pathology , Centre hospitalier Lyon Sud , Hospices Civils de Lyon, Pierre Bénite, Lyon , France.
2
b Société Française de Foetopathologie (SOFFOET) , Rennes , France.
3
c Département d'Explorations Fonctionnelles Endocriniennes, Sorbonne Université, AP-HP , Hôpitaux Universitaires Paris Est, Hôpital Armand Trousseau, Inserm UMR_S938, Centre de Recherche Saint Antoine , Paris , France.
4
d Department of Medical Genetics , CHU Nantes , Nantes , France.
5
e Department of Gynecology and Obstetrics , Hôpital Femme-Mère Enfants, Hospices Civils de Lyon , Bron , France.
6
f Registre des Malformations en Rhône-Alpes (REMERA) , Lyon , France.

Abstract

OBJECTIVES:

To evaluate the frequency of placental pathological lesions in Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder that exhibits etiologic molecular heterogeneity and variable phenotypic expression.

MATERIALS AND METHODS:

The study included 60 BWS patients with a proven molecular diagnosis and a placental pathological examination. Placentomegaly, placental mesenchymal dysplasia (PMD), chorangioma/chorangiomatosis, and extravillous trophoblastic (EVT) cytomegaly were evaluated and their frequencies in the different molecular subgroups were compared. Immunohistochemistry and fluorescent in situ hybridization (FISH) were performed on EVT cytomegaly.

RESULTS:

Placentomegaly was found in 70.9% of cases, PMD in 21.7%, chorangioma/chorangiomatosis in 23.3%, and EVT cytomegaly in 21.7%; there was no significant intergroup difference. EVT cytomegaly showed loss of p57 expression, increased Ki67 proliferating index, and polyploidy on FISH analysis.

CONCLUSIONS:

There was no genotype/epigenotype-phenotype correlation concerning placental lesions in BWS. Diffuse EVT cytomegaly with polyploidy may represent a placental finding suggestive of BWS.

KEYWORDS:

11p15 region; Beckwith–Wiedemann syndrome; chorangioma; cytomegaly; placenta; placental mesenchymal dysplasia

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