Mutational analysis of cervical cytology improves diagnosis of endometrial cancer: A prospective multicentre cohort study
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Publisher’s version
Publication year
2020Author(s)
Number of pages
8 p.
Source
International Journal of Cancer, 146, 9, (2020), pp. 2628-2635ISSN
Publication type
Article / Letter to editor
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Organization
Gynaecology
Radiation Oncology
Pathology
Radboudumc Extern
Human Genetics
Journal title
International Journal of Cancer
Volume
vol. 146
Issue
iss. 9
Languages used
English (eng)
Page start
p. 2628
Page end
p. 2635
Subject
Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health Sciences; Radboudumc 17: Women's cancers RIMLS: Radboud Institute for Molecular Life SciencesAbstract
Endometrial carcinoma (EC) is traditionally diagnosed by a histopathological assessment of an endometrial biopsy, leaving up to 30% of patients undiagnosed due to technical failure or an inadequate amount of tissue. The aim of the current study is to assess whether mutational analysis of cervical cytology or pipelle endometrial biopsies improves the diagnostic accuracy of traditional histopathological diagnosis of EC. This prospective multicentre cohort study included patients surgically treated for EC or a benign gynaecological condition (control group). A Pap brush sample, cervicovaginal self-sample, pipelle endometrial biopsy and surgical specimen of either the EC or normal endometrium were obtained. A targeted next-generation sequencing panel was used to analyse these samples for mutations in eight genes. Sensitivity, specificity and predictive values were calculated. Fifty-nine EC patients and 31 control patients were included. In these patients, traditional histopathological diagnosis by pipelle had a sensitivity of 79% and a specificity of 100%. For EC patients, 97% of surgical specimens contained at least one mutation. Mutational analysis of Pap brush samples, self-samples and pipelle endometrial biopsies yielded a sensitivity of 78, 67 and 96% with a specificity of 97, 97 and 94%, respectively. Combining one of these three methods with histopathological pipelle endometrial biopsy evaluations yielded a sensitivity of 96, 93 and 96%, respectively. Our study has shown that mutational analysis of either cervical cytology or pipelle endometrial biopsies improves diagnosis of EC. Prospective validation will support implementation in clinical practice.
This item appears in the following Collection(s)
- Academic publications [238586]
- Electronic publications [122804]
- Faculty of Medical Sciences [90409]
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