Imperial College London
Alternate

DrRosemaryFisher

Faculty of Medicine, Department of Surgery & Cancer

Honorary Senior Lecturer
 
 
 
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Contact

 

+44 (0)20 3311 1413r.fisher

 
 
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Location

 

Medical OncologyCharing Cross Campus

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Summary

 

Publications

Citation

BibTex format

@article{Fisher:2015:10.1016/j.ebiom.2015.12.022,
author = {Fisher, RA and Openshaw, M and Harvey, R and Sebire, N and Kaur, B and Sarwar, N and Seckl, M},
doi = {10.1016/j.ebiom.2015.12.022},
journal = {EBioMedicine},
pages = {146--152},
title = {Circulating cell free DNA in the diagnosis of trophoblastic tumors},
url = {http://dx.doi.org/10.1016/j.ebiom.2015.12.022},
volume = {4},
year = {2015}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Gestational trophoblastic neoplasia (GTN) represents a group of diseases characterized by production of humanchorionic gonadotropin (hCG). Since non-gestational tumors may occasionally secrete hCG, histopathological diagnosisis important for appropriate clinical management. However, a histopathological diagnosis is not alwaysavailable. We therefore investigated the feasibility of extracting cell free DNA (cfDNA) from the plasma ofwomen with GTN for use as a “liquid biopsy” in patients without histopathological diagnosis. cfDNA was preparedfrom the plasma of 20 women with a diagnosis of GTN and five with hCG-secreting tumors of unknownorigin. Genotyping of cfDNA from the patient, genomic DNA from her and her partner and DNA from thetumor tissue identified circulating tumor DNA (ctDNA) (from 9% to 53% of total cfDNA) in 12 of 20 patientswith GTN. In one case without a tissue diagnosis, ctDNA enabled a diagnosis of GTN originating in a non-molarconception and in another a diagnosis of non-gestational tumor, based on the high degree of allelic instabilityand loss of heterozygosity in the ctDNA. In summary ctDNA can be detected in the plasma of women with GTNand can facilitate the diagnosis of both gestational and non-gestational trophoblastic tumors in cases withouthistopathological diagnosis
AU  - Fisher,RA
AU  - Openshaw,M
AU  - Harvey,R
AU  - Sebire,N
AU  - Kaur,B
AU  - Sarwar,N
AU  - Seckl,M
DO  - 10.1016/j.ebiom.2015.12.022
EP  - 152
PY  - 2015///
SN  - 2352-3964
SP  - 146
TI  - Circulating cell free DNA in the diagnosis of trophoblastic tumors
T2  - EBioMedicine
UR  - http://dx.doi.org/10.1016/j.ebiom.2015.12.022
UR  - http://hdl.handle.net/10044/1/28833
VL  - 4
ER  -
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