PMID- 28864017
OWN - NLM
STAT- MEDLINE
DCOM- 20180529
LR  - 20180529
IS  - 1532-3102 (Electronic)
IS  - 0143-4004 (Linking)
VI  - 57
DP  - 2017 Sep
TI  - Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of 
      genomic changes in the etiology of enlarged cystic placenta.
PG  - 33-41
LID - S0143-4004(17)30284-9 [pii]
LID - 10.1016/j.placenta.2017.05.018 [doi]
AB  - INTRODUCTION: The genetics and pathology of diploid complete and triploid partial 
      hydatidiform moles have been well established. Enlarged cystic placenta often 
      indicates an underlying etiology and is frequently associated with adverse 
      pregnancy outcome. Several imprinted genes are strongly expressed in placental 
      tissues and essential for normal placental growth and development. Disruption of 
      these imprinted genes can lead to abnormal placental pathology and placental 
      stunting or overgrowth. We present the genetic etiologies of five unusual mosaic 
      cases of enlarged cystic placentas and report a novel etiology, mosaicism for 
      deletion of the maternal GRB10 gene. METHODS: Five mosaic placental mesenchymal 
      dysplasia cases with discrete populations of "cystic" and "normal" villi and/or 
      atypical p57(KIP2) immunostaining were evaluated by genetic analysis; including 
      G-banded karyotyping, fluorescence in situ hybridization (FISH), whole genome 
      CGH + SNP microarray, conventional Sanger sequencing, and STR microsatellite 
      analysis. RESULTS: Genetic etiologies ranged from genome-wide changes, including 
      mosaic androgenetic isodisomy and mosaic diandric triploidy, to a novel 
      microdeletion of the maternally-expressed GRB10 gene. An abnormal mosaic 
      population of cells was also detected in the fetus in two cases. DISCUSSION: Four 
      cases were mosaic for either diandric triploidy or an androgenetic cell 
      population, and the enlarged cystic placentas were likely due to an excess of 
      paternally-expressed growth promoting genes and also the absence of 
      maternally-expressed growth restricting genes. Also we identified mosaicism for a 
      novel microdeletion of the maternal GRB10 allele, a potent growth inhibitor, 
      which resulted in placental overgrowth in the cystic area of one placenta. We 
      advocate the use of ancillary techniques to investigate complex mosaic cases of 
      enlarged cystic placentas to discover atypical genetic etiologies and to increase 
      our understanding of the placental genome.
CI  - Copyright (c) 2017 Elsevier Ltd. All rights reserved.
FAU - Surti, Urvashi
AU  - Surti U
AD  - Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, 
      PA, USA; Department of Obstetrics, Gynecology & Reproductive Sciences, University 
      of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Department of Human 
      Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, 
      PA, USA; Magee-Womens Research Institute, University of Pittsburgh School of 
      Medicine, Pittsburgh, PA, USA.
FAU - Yatsenko, Svetlana
AU  - Yatsenko S
AD  - Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, 
      PA, USA; Department of Obstetrics, Gynecology & Reproductive Sciences, University 
      of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Department of Human 
      Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, 
      PA, USA.
FAU - Hu, Jie
AU  - Hu J
AD  - Department of Obstetrics, Gynecology & Reproductive Sciences, University of 
      Pittsburgh School of Medicine, Pittsburgh, PA, USA.
FAU - Bellissimo, Daniel
AU  - Bellissimo D
AD  - Department of Obstetrics, Gynecology & Reproductive Sciences, University of 
      Pittsburgh School of Medicine, Pittsburgh, PA, USA.
FAU - Parks, W Tony
AU  - Parks WT
AD  - Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, 
      PA, USA.
FAU - Hoffner, Lori
AU  - Hoffner L
AD  - Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, 
      PA, USA; Magee-Womens Research Institute, University of Pittsburgh School of 
      Medicine, Pittsburgh, PA, USA. Electronic address: lhoffner@mail.magee.edu.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170602
PL  - Netherlands
TA  - Placenta
JT  - Placenta
JID - 8006349
RN  - 0 (GRB10 protein, human)
RN  - 151441-47-3 (GRB10 Adaptor Protein)
SB  - IM
MH  - Adult
MH  - Cysts/*genetics
MH  - Female
MH  - GRB10 Adaptor Protein/*genetics
MH  - Genome, Human
MH  - Humans
MH  - Male
MH  - Mosaicism
MH  - Placenta Diseases/*genetics
MH  - Pregnancy
MH  - Sequence Deletion
MH  - Uniparental Disomy
MH  - Young Adult
OTO - NOTNLM
OT  - Androgenetic
OT  - Cystic placenta
OT  - GRB10
OT  - Placental mesenchymal dysplasia
EDAT- 2017/09/03 06:00
MHDA- 2018/05/31 06:00
CRDT- 2017/09/03 06:00
PHST- 2017/02/20 00:00 [received]
PHST- 2017/05/30 00:00 [revised]
PHST- 2017/05/31 00:00 [accepted]
PHST- 2017/09/03 06:00 [entrez]
PHST- 2017/09/03 06:00 [pubmed]
PHST- 2018/05/31 06:00 [medline]
AID - S0143-4004(17)30284-9 [pii]
AID - 10.1016/j.placenta.2017.05.018 [doi]
PST - ppublish
SO  - Placenta. 2017 Sep;57:33-41. doi: 10.1016/j.placenta.2017.05.018. Epub 2017 Jun 
      2.