TY - JOUR
T1 - Androgenetic/biparental mosaicism in a diploid mole-like conceptus
T2 - report of a case with triple paternal contribution
AU - Donzel, Marie
AU - Gaillot-Durand, Lucie
AU - Joubert, Madeleine
AU - Aziza, Jacqueline
AU - Beneteau, Claire
AU - Mauduit, Claire
AU - Ploteau, Stéphane
AU - Hajri, Touria
AU - Bolze, Pierre-Adrien
AU - Massardier, Jérôme
AU - Devouassoux-Shisheboran, Mojgan
AU - Sunde, Lone
AU - Allias, Fabienne
N1 - © 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
PY - 2023/11
Y1 - 2023/11
N2 - Hydatidiform moles (HMs) are divided into two types: partial hydatidiform mole (PHM) which is most often diandric monogynic triploid and complete hydatidiform mole (CHM) which is most often diploid androgenetic. Morphological features and p57 immunostaining are routinely used to distinguish both entities. Genetic analyses are required in challenging cases to determine the parental origin of the genome and ploidy. Some gestations cannot be accurately classified however. We report a case with atypical pathologic and genetic findings that correspond neither to CHM nor to PHM. Two populations of villi with divergent and discordant p57 expression were observed: morphologically normal p57 + villi and molar-like p57 discordant villi with p57 + stromal cells and p57 - cytotrophoblasts. Genotyping of DNA extracted from microdissected villi demonstrated that the conceptus was an androgenetic/biparental mosaic, originating from a zygote with triple paternal contribution, and that only the p57 - cytotrophoblasts were purely androgenetic, increasing the risk of neoplastic transformation.
AB - Hydatidiform moles (HMs) are divided into two types: partial hydatidiform mole (PHM) which is most often diandric monogynic triploid and complete hydatidiform mole (CHM) which is most often diploid androgenetic. Morphological features and p57 immunostaining are routinely used to distinguish both entities. Genetic analyses are required in challenging cases to determine the parental origin of the genome and ploidy. Some gestations cannot be accurately classified however. We report a case with atypical pathologic and genetic findings that correspond neither to CHM nor to PHM. Two populations of villi with divergent and discordant p57 expression were observed: morphologically normal p57 + villi and molar-like p57 discordant villi with p57 + stromal cells and p57 - cytotrophoblasts. Genotyping of DNA extracted from microdissected villi demonstrated that the conceptus was an androgenetic/biparental mosaic, originating from a zygote with triple paternal contribution, and that only the p57 - cytotrophoblasts were purely androgenetic, increasing the risk of neoplastic transformation.
KW - Androgenetic
KW - Gestational trophoblastic disease
KW - Hydatidiform mole
KW - Inverted discordant p57 expression
KW - Molecular genotyping
KW - Mosaicism
UR - http://www.scopus.com/inward/record.url?scp=85170834867&partnerID=8YFLogxK
U2 - 10.1007/s00428-023-03638-y
DO - 10.1007/s00428-023-03638-y
M3 - Journal article
C2 - 37695410
SN - 0945-6317
VL - 483
SP - 709
EP - 715
JO - Virchows Archiv
JF - Virchows Archiv
IS - 5
ER -