Lucie Gaillot-Durand1,2, Frederic Brioude3, Claire Beneteau2,4, Frédérique Le Breton1,2, Jerome Massardier2,5, Lucas Michon6, Mojgan Devouassoux-Shisheboran1, Fabienne Allias1,2. 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.
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 BWSpatients 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.