Czukiewska E, Narowska D, Czukiewski T, Pasieka I, Kuźniar A. Clinical consequences of the co-occurence of BRCA2 and NF1 mutation in ovarian cancer: A case report. World J Clin Cases 2026; 14(10): 119088 [DOI: 10.12998/wjcc.v14.i10.119088]
Corresponding Author of This Article
Ewa Czukiewska, Adjunct Associate Professor, Faculty of Medicine, The John Paul II Catholic University of Lublin, Ul. Konstantynów 1J, Lublin 20-708, Poland. ewa.czukiewska@gmail.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Apr 6, 2026 (publication date) through Apr 5, 2026
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Publication Name
World Journal of Clinical Cases
ISSN
2307-8960
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Czukiewska E, Narowska D, Czukiewski T, Pasieka I, Kuźniar A. Clinical consequences of the co-occurence of BRCA2 and NF1 mutation in ovarian cancer: A case report. World J Clin Cases 2026; 14(10): 119088 [DOI: 10.12998/wjcc.v14.i10.119088]
Ewa Czukiewska, Agnieszka Kuźniar, Faculty of Medicine, The John Paul II Catholic University of Lublin, Lublin 20-708, Poland
Dominika Narowska, Third Department of Psychiatry, Institute of Psychiatry and Neurology in Warsaw, Warszawa 02-957, Poland
Tymoteusz Czukiewski, Faculty of Medicine, Medical University of Lublin, Lublin 20-059, Poland
Ilona Pasieka, Medical Laboratory, 1st Military Clinical Hospital with the Outpatient Clinic, Lublin 20-049, Poland
Author contributions: Czukiewska E, Narowska D, and Kuźniar A conceptualized and designed the research; Czukiewska E and Czukiewski T screened patients and acquired clinical data; Pasieka I collected blood specimen and performed laboratory analysis; Czukiewska E, Narowska D, and Kuźniar A performed data analysis; Czukiewska E, Narowska D, Czukiewski T, and Kuźniar A wrote the paper; and all the authors have read and approved the final manuscript; Czukiewska E was responsible for patient screening, enrollment, collection of clinical.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Ewa Czukiewska, Adjunct Associate Professor, Faculty of Medicine, The John Paul II Catholic University of Lublin, Ul. Konstantynów 1J, Lublin 20-708, Poland. ewa.czukiewska@gmail.com
Received: January 21, 2026 Revised: February 9, 2026 Accepted: March 4, 2026 Published online: April 6, 2026 Processing time: 73 Days and 11.1 Hours
Abstract
BACKGROUND
The simultaneous occurrence of pathogenic variants in both neurofibromatosis type 1 (NF1) and BRCA2 genes is extremely rare and remains poorly characterized. Each gene independently confers a substantial risk of malignancy, NF1 through dysregulation of the RAS/PI3K/AKT/mTOR pathway, while BRCA2 through homologous recombination deficiency. A potential synergistic impact of dual germline defects on tumor susceptibility, onset, and phenotype has been reported only in isolated cases.
CASE SUMMARY
In the article, we present the case of a 40-year-old woman with clinically confirmed NF1 and a strong family history of breast and ovarian cancer. Comprehensive next-generation sequencing identified coexisting pathogenic variants in BRCA2 (c.8909G>A, p.Trp2970Ter) and NF1 (c.1527+1G>C). Shortly after genetic evaluation, the patient was incidentally diagnosed with high-grade serous ovarian carcinoma [International Federation of Gynecology and Obstetrics (FIGO) III] during prophylactic adnexectomy. She underwent cytoreductive surgery followed by adjuvant chemotherapy with bevacizumab, paclitaxel, and carboplatin, and she has continued maintenance therapy with Olaparib, achieving long-term disease remission with stable cancer antigen 125 levels. Imaging revealed neurofibromatous lesions of the thoracolumbar spine and multiple cutaneous neurofibromas consistent with NF1. However, the patient declined prophylactic mastectomy and remains under intensified breast surveillance.
CONCLUSION
This case underscores the clinical significance of dual pathogenic variants in NF1 and BRCA2, suggesting potential synergistic effects on early tumorigenesis and tumor biology. It highlights the importance of comprehensive genetic testing in complex hereditary cancer presentations, as well as multidisciplinary surveillance, and individualized risk-reduction strategies. Further clinical evidence and mechanistic studies are required to clarify the oncologic implications of this rare genetic combination.
Core Tip: This case underscores the clinical significance of dual pathogenic variants in neurofibromatosis type 1 and BRCA2, suggesting potential synergistic effects on early tumorigenesis and tumor biology. It highlights the importance of comprehensive genetic testing in complex hereditary cancer presentations, as well as multidisciplinary surveillance, and individualized risk-reduction strategies.
