TY - JOUR
T1 - Complete hydatidiform mole retaining a chromosome 11 of maternal origin
T2 - Molecular genetic analysis of a case
AU - Fisher, Rosemary A.
AU - Nucci, Marisa R.
AU - Thaker, Harshwardhan M.
AU - Weremowicz, Stanislawa
AU - Genest, David R.
AU - Castrillon, Diego H.
N1 - Funding Information:
RAF is funded by the Cancer Treatment and Research Trust. DHC is supported by a K08 award from the National Cancer Institute of the National Institutes of Health and a Kimmel Scholar Award from the Sydney Kimmel Foundation for Cancer Research.
Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2004/9
Y1 - 2004/9
N2 - Hydatidiform moles are pregnancies characterized by abnormal development of both embryonic and extraembryonic tissues and are associated with the misexpression of imprinted genes. The vast majority of complete hydatidiform moles are diploid and androgenetic, whereas partial hydatidiform moles are triploid, with an extra set of chromosomes of paternal origin. Here, we present an unusual complete mole that showed strong expression of two imprinted, maternally transcribed genes, CDKN1C (encoding p57KIP2) and PHLDA2 (TSSC3/IPL), both part of a large imprinted gene domain on chromosome 11. Using microsatellite genotyping and fluorescent in situ hybridization, we show that this paradoxical gene expression was due to retention of a maternal copy of chromosome 11 in addition to the two paternal copies normally present in complete moles. These findings demonstrate that, despite being predominantly androgenetic, some complete moles contain small amounts of DNA of maternal origin. Furthermore, these results provide an explanation for rare false negatives that can arise when p57KIP2 is used as a diagnostic marker for complete moles.
AB - Hydatidiform moles are pregnancies characterized by abnormal development of both embryonic and extraembryonic tissues and are associated with the misexpression of imprinted genes. The vast majority of complete hydatidiform moles are diploid and androgenetic, whereas partial hydatidiform moles are triploid, with an extra set of chromosomes of paternal origin. Here, we present an unusual complete mole that showed strong expression of two imprinted, maternally transcribed genes, CDKN1C (encoding p57KIP2) and PHLDA2 (TSSC3/IPL), both part of a large imprinted gene domain on chromosome 11. Using microsatellite genotyping and fluorescent in situ hybridization, we show that this paradoxical gene expression was due to retention of a maternal copy of chromosome 11 in addition to the two paternal copies normally present in complete moles. These findings demonstrate that, despite being predominantly androgenetic, some complete moles contain small amounts of DNA of maternal origin. Furthermore, these results provide an explanation for rare false negatives that can arise when p57KIP2 is used as a diagnostic marker for complete moles.
KW - CDKN1C
KW - Genomic imprinting
KW - Hydatidiform mole
KW - IPL
KW - P57
KW - PHLDA2
KW - Trisomy 11
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U2 - 10.1038/modpathol.3800175
DO - 10.1038/modpathol.3800175
M3 - Article
C2 - 15314611
AN - SCOPUS:4344686891
VL - 17
SP - 1155
EP - 1160
JO - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
JF - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
SN - 0893-3952
IS - 9
ER -