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Diagnostic Pathology

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Open Access 01-12-2016 | Case Report

Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11

Authors: Neil J Sebire, Philippa C May, Baljeet Kaur, Michael J Seckl, Rosemary A Fisher

Published in: Diagnostic Pathology | Issue 1/2016

Abstract

Background

Pregnancies affected by non-molar chromosomal abnormality may sometimes demonstrate abnormal chorionic villous morphology that is similar to partial hydatidiform mole. Determination of the underlying aetiology may be difficult in such cases.

Case Presentation

This report describes a case referred to the regional trophoblastic disease unit as a possible hydatidiform mole that demonstrated both villous dysmorphology and abnormal p57^KIP2 expression. Molecular genotyping revealed that while most chromosomes in the villous tissue were diploid and biparental, chromosomes 3, 7 and 8 were trisomic with an additional paternally derived chromosome. In contrast chromosome 11 showed uniparental disomy of paternal origin a situation more usually associated with complete hydatidiform moles. This unusual case highlights that exceptions may occur to the general rules of both histological morphology and immunoprofile, and that these can be resolved by detailed molecular genetic investigations.

Conclusion

The findings confirm that trisomic pregnancies may demonstrate morphological villous features similar to hydatidiform mole, and that loss of p57^KIP2 expression occurs due to an absence of maternally transcribed genes on chromosome 11 and can therefore be independent of androgenetic complete hydatidiform mole.

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Title: Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11
Authors: Neil J Sebire
Philippa C May
Baljeet Kaur
Michael J Seckl
Rosemary A Fisher
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Diagnostic Pathology / Issue 1/2016
Electronic ISSN: 1746-1596
DOI: https://doi.org/10.1186/s13000-016-0471-9

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Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11

Abstract

Background

Case Presentation

Conclusion

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Abstract

Background

Case Presentation

Conclusion

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