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Molecular genotyping of placental site and epithelioid trophoblastic tumours; female predominance

Zhao, S; Sebire, NJ; Kaur, B; Seckl, MJ; Fisher, RA; (2016) Molecular genotyping of placental site and epithelioid trophoblastic tumours; female predominance. Gynecologic Oncology , 142 (3) pp. 501-507. 10.1016/j.ygyno.2016.05.033. Green open access

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Abstract

OBJECTIVE: To investigate a large series of placental site trophoblastic tumours (PSTT) and epithelioid trophoblastic tumours (ETT) and determine the relationship between their development and the type and sex of both the immediately antecedent and causative pregnancies. METHODS: The antecedent pregnancy was determined from patient records in 92 cases with a confirmed diagnosis of PSTT, ETT or mixed PSTT/ETT. In a subset of 57 cases, type and sex of the causative pregnancy was established by molecular genotyping of patient and tumour tissue microdissected from formalin-fixed, paraffin-embedded blocks. RESULTS: The antecedent pregnancy was a normal live birth in 59 (64%) cases, a hydatidiform mole in 19 (21%) and other pregnancy loss in 14 (15%). Where the sex was recorded, 36 (78%) of 46 antecedent normal pregnancies were female, a significantly greater proportion than expected (p<0.0001). Genotyping of 57 cases found 15 (26%) to derive from hydatidiform moles while 42 (74%) arose in non-molar pregnancies. Where the causative pregnancy was non-molar, 38 (91%) tumours arose in female conceptions, significantly greater than expected (p <0.0001). Analysis of short tandem repeats on the X chromosome in three tumours with an XY chromosomal constitution confirmed that the X chromosome was maternal in origin. CONCLUSIONS: PSTT and ETT predominantly arise in female pregnancies but can develop in male pregnancies. A male derived X chromosome is not required for the development of these tumours. While these tumours are predominantly female it is not because most originate in complete hydatidiform moles.

Type: Article
Title: Molecular genotyping of placental site and epithelioid trophoblastic tumours; female predominance
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ygyno.2016.05.033
Publisher version: http://dx.doi.org/10.1016/j.ygyno.2016.05.033
Language: English
Additional information: Copyright © 2016 Elsevier Inc. All rights reserved.
Keywords: Gestational trophoblastic disease, Y chromosome, epithelioid trophoblastic tumour, molecular genotyping, placental site trophoblastic tumour
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1496344
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