Journal of Biomedical and Clinical Research 19: 99-105, doi: 10.3897/jbcr.e184757
Mucinous borderline ovarian tumour with concurrent germline WRN and somatic KRAS mutations: a case report
Zornitsa Kamburova‡§, Savelina Popovska‡§, Chavdar Tsvetkov|‡ Medical University of Pleven, Pleven, Bulgaria§ Centre of Competence in Personalized Medicine, 3D and Telemedicine, Robotic Assisted and Minimally Invasive Surgery – “Leonardo da Vinci”, Pleven, Bulgaria| University Hospital “Dr. Georgi Stranski”, Pleven, Bulgaria
Corresponding author: Zornitsa Kamburova ( zornitca.kamburova@mu-pleven.bg ) Academic editor: Ivelina Yordanova © Zornitsa Kamburova, Savelina Popovska, Chavdar Tsvetkov. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Citation:
Kamburova Z, Popovska S, Tsvetkov C (2026) Mucinous borderline ovarian tumour with concurrent germline WRN and somatic KRAS mutations: a case report. Journal of Biomedical and Clinical Research 19: 99-105. https://doi.org/10.3897/jbcr.e184757 |  |
Abstract
We report the case of a 52-year-old woman who presented with a large pelvic mass, which was surgically removed and diagnosed as a mucinous borderline ovarian tumour (MBT) of intestinal type. Comprehensive genomic testing revealed two significant alterations: a pathogenic germline WRN stop-gain variant (NM_000553.4:c.1105C>T, p.Arg369Ter; exon 9/35) and a somatic KRAS mutation (c.35G>T, p.Gly12Val). The coexistence of these findings suggests that inherited impairment of DNA repair mechanisms, which, together with acquired activation of the RAS pathway, may have cooperated in driving tumour formation. Functionally, loss of WRN activity could have promoted genomic instability, allowing the emergence of oncogenic KRAS activation as a secondary event. The patient underwent a total hysterectomy with bilateral adnexectomy. Histopathological examination confirmed an intestinal-type MBT without stromal invasion. This case illustrates how integrating germline and somatic analyses can uncover the molecular interplay between inherited predisposition and tumour evolution, offering valuable information for personalised risk assessment, family counselling, and long-term clinical surveillance.
Keywords
DNA repair deficiency, genetic counseling, germline variant, KRAS mutation, mucinous borderline ovarian tumour, oncogenic signalling, WRN gene