Circulating cell free DNA in the diagnosis of trophoblastic tumors

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Title: Circulating cell free DNA in the diagnosis of trophoblastic tumors
Authors: Fisher, RA
Openshaw, M
Harvey, R
Sebire, N
Kaur, B
Sarwar, N
Seckl, M
Item Type: Journal Article
Abstract: Gestational trophoblastic neoplasia (GTN) represents a group of diseases characterized by production of human chorionic gonadotropin (hCG). Since non-gestational tumors may occasionally secrete hCG, histopathological diagnosis is important for appropriate clinical management. However, a histopathological diagnosis is not always available. We therefore investigated the feasibility of extracting cell free DNA (cfDNA) from the plasma of women with GTN for use as a liquid biopsy in patients without histopathological diagnosis. cfDNA was prepared from the plasma of 20 women with a diagnosis of GTN and five with hCG-secreting tumors of unknown origin. Genotyping of cfDNA from the patient, genomic DNA from her and her partner and DNA from the tumor tissue identified circulating tumor DNA (ctDNA) (from 9% to 53% of total cfDNA) in 12 of 20 patients with GTN. In one case without a tissue diagnosis, ctDNA enabled a diagnosis of GTN originating in a non-molar conception and in another a diagnosis of non-gestational tumor, based on the high degree of allelic instability and loss of heterozygosity in the ctDNA. In summary ctDNA can be detected in the plasma of women with GTN and can facilitate the diagnosis of both gestational and non-gestational trophoblastic tumors in cases without histopathological diagnosis.
Issue Date: 29-Dec-2015
Date of Acceptance: 26-Dec-2015
ISSN: 2352-3964
Publisher: Elsevier
Start Page: 146
End Page: 152
Journal / Book Title: EBioMedicine
Volume: 4
Copyright Statement: © 2015 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (
Sponsor/Funder: National Institute for Health Research
Funder's Grant Number: CRUK/NIHR ECMC
Keywords: Cell free DNA
Circulating tumor DNA
Hydatidiform mole
Liquid biopsy
Molecular genotyping
Trophoblastic tumor
Publication Status: Published
Appears in Collections:Division of Surgery
Division of Cancer
Faculty of Medicine

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