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Diandric Triploid Hydatidiform Mole With Loss of Maternal Chromosome 11.
MedLine Citation:
PMID:  21881485     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Distinction of hydatidiform moles (HM) from nonmolar specimens and their subclassification as complete (CHM) versus partial hydatidiform mole (PHM) are important for clinical practice and investigational studies to refine ascertainment of risk of persistent gestational trophoblastic disease (GTD), which differs among these entities. Immunohistochemical analysis of p57 expression, a paternally imprinted maternally expressed gene on 11p15.5, and molecular genotyping are useful for improving diagnosis. CHMs are characterized by androgenetic diploidy, with loss of p57 expression due to lack of maternal DNA. Loss of p57 expression distinguishes CHMs from both PHMs (diandric triploidy) and nonmolar specimens (biparental diploidy), which retain expression. We report a unique HM characterized by morphologic features suggesting an early CHM, including lack of p57 expression by immunohistochemistry, but with genetic features more in keeping with a PHM. Specifically, molecular genotyping by short tandem repeat markers provided evidence to support interpretation as a PHM by demonstrating allele patterns and ratios most consistent with diandric triploidy, with evidence of loss of the maternal copy of chromosome 11 to explain the lack of p57 expression. This case illustrates the value of combined traditional pathologic and ancillary molecular techniques for refined diagnosis of molar specimens. It also raises questions regarding which modalities should be used to ultimately define the subtypes of HMs and whether chromosomal losses or gains, particularly involving imprinted genes such as p57, might play a role in modifying risk of persistent GTD.
Authors:
Cheryl Descipio; Lisa Haley; Katie Beierl; Ashwini P Pandit; Kathleen M Murphy; Brigitte M Ronnett
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-8-29
Journal Detail:
Title:  The American journal of surgical pathology     Volume:  -     ISSN:  1532-0979     ISO Abbreviation:  -     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-9-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7707904     Medline TA:  Am J Surg Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Departments of *Pathology †Gynecology & Obstetrics, The Johns Hopkins Medical Institutions, Baltimore ‡ObGyn Women's Care P.C., Hyattsville §Holy Cross Hospital, Silver Spring, MD.
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