Clinical consequences of the co-occurence of BRCA2 and NF1 mutation in ovarian cancer: A case report

Table 1 Co-occurrence of germline NF1 and BRCA2 variants: Published cases and the present report

Ref.	Patient (sex, age)	Clinical presentation/tumor spectrum	Germline variants (NF1; BRCA2)	Key management	Outcome/follow-up
Current case	Female, 40	Clinically confirmed NF1; strong maternal family history of breast cancer; incidentally detected high-grade serous ovarian carcinoma (FIGO III; pT3cN0M0)	NF1: c.1527+1G>C (splice-site) BRCA2: c.8909G>A (p.Trp2970Ter)	Cytoreductive surgery (hysterectomy + BSO + omentectomy ± lymph nodes); platinum-taxane chemotherapy + bevacizumab; olaparib maintenance; intensified breast surveillance (MRI/MMG/US); prophylactic mastectomy declined	Durable remission; long-term CA125 normalization; no radiologic progression on serial imaging
Chaidarun et al[16], 2020	Female, 40	Bilateral breast cancer and pheochromocytoma in the context of NF1	NF1: NR BRCA2: NR (reported as BRCA2-positive)	Preoperative alpha-blockade; adrenal surgery; oncologic management of breast cancer (details NR)	Favorable postoperative course; long-term follow-up NR
Choi[15], 2024	Male, 41	Intrathoracic neurofibroma and extensive lipomatosis; no malignancy reported	NF1: NR BRCA2: NR (combined germline NF1 and BRCA2 reported)	Surgical resection of intrathoracic neurofibroma; surveillance	Outcome NR (conference abstract; limited follow-up)
Cohen[17], 2021	Female, 67	Classic NF1 manifestations; chronic lymphocytic leukemia	NF1: NR BRCA2: NR (BRCA2-positive reported)	Rituximab therapy	Favorable and sustained response; no significant progression during reported follow-up

BSO: Bilateral salpingo-oophorectomy; CA125: Cancer antigen 125; FIGO: International Federation of Gynecology and Obstetrics; MMG: Mammography; MRI: Magnetic resonance imaging; NF1: Neurofibromatosis type 1; NR: Not reported; US: Ultrasound.